Sökresultat - "GENETIC variation"

Subcontinental genetic variation in the All of Us Research Program: Implications for biomedical research.

Gouveia MH; Center for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA. Electronic address: mateus.gouveia@nih.gov., Meeks KAC; Center for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA; Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA., Borda V; The University of Maryland-Institute for Health Computing, University of Maryland School of Medicine, North Bethesda, MD, USA; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA., Leal TP; Lerner Research Institute, Genomic Medicine, Cleveland Clinic, Cleveland, OH, USA., Kehdy FSG; Laboratório de Hanseníase, Instituto Oswaldo Cruz, Fundação Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brazil., Mogire R; Center for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA., Doumatey AP; Center for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA., Tarazona-Santos E; Department of Genetics, Ecology, and Evolution, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Kittles RA; Morehouse School of Medicine, Atlanta, GA, USA., Mata IF; Lerner Research Institute, Genomic Medicine, Cleveland Clinic, Cleveland, OH, USA., O'Connor TD; The University of Maryland-Institute for Health Computing, University of Maryland School of Medicine, North Bethesda, MD, USA; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA., Adeyemo AA; Center for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA., Shriner D; Center for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA., Rotimi CN; Center for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA. Electronic address: rotimic@mail.nih.gov.

Journal Article , 2025

Pea aphid wing plasticity variation has a multigenic basis.

Driscoll RMH; Department of Biology, University of Rochester, Rochester, NY, United States., Liu X; Department of Biology, University of Rochester, Rochester, NY, United States., McDonough J; Department of Biology, University of Rochester, Rochester, NY, United States., Schmidt J; Department of Biology, University of Rochester, Rochester, NY, United States., Brisson JA; Department of Biology, University of Rochester, Rochester, NY, United States.

Journal Article , 2025

A Novel Genetic Variation Identified in Patients With Orofacial Clefts.

Yu LL; Department of Health Education, Jiangxi Maternal and Child Health Hospital, Maternal and Child Health Hospital of Nanchang Medical College, Jiangxi Hospital Affiliated to Children's Hospital of Chongqing Medical University., Zeng Q; Department of Plastic Surgery, Jiangxi Provincial People's Hospital, The First Affiliated Hospital of Nanchang Medical College, Nanchang., Yu BF; Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine., Wei J; Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine., Dai CC; Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine.; Department of Ear, nose and throat, Shanghai Ninth People's Hospital Huangpu Branch, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Journal Article , 2025

Genetic variation in a tandemly duplicated TPS gene cluster contributes to the diversity of aroma in lychee fruit.

Hu H; Guangdong Basic Research Center of Excellence for Precise Breeding of Future Crops, State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Biology and Germplasm Enhancement of Horticultural Crops in (South China) at Ministry of Agriculture and Rural Affairs, College of Horticulture, South China Agricultural University, Guangzhou, Guangdong, 510642, China., Liu H; Guangdong Basic Research Center of Excellence for Precise Breeding of Future Crops, State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Biology and Germplasm Enhancement of Horticultural Crops in (South China) at Ministry of Agriculture and Rural Affairs, College of Horticulture, South China Agricultural University, Guangzhou, Guangdong, 510642, China., Zeng Z; Guangdong Basic Research Center of Excellence for Precise Breeding of Future Crops, State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Biology and Germplasm Enhancement of Horticultural Crops in (South China) at Ministry of Agriculture and Rural Affairs, College of Horticulture, South China Agricultural University, Guangzhou, Guangdong, 510642, China., Xiao Y; Guangdong Basic Research Center of Excellence for Precise Breeding of Future Crops, State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Biology and Germplasm Enhancement of Horticultural Crops in (South China) at Ministry of Agriculture and Rural Affairs, College of Horticulture, South China Agricultural University, Guangzhou, Guangdong, 510642, China., Mai Y; Guangdong Basic Research Center of Excellence for Precise Breeding of Future Crops, State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Biology and Germplasm Enhancement of Horticultural Crops in (South China) at Ministry of Agriculture and Rural Affairs, College of Horticulture, South China Agricultural University, Guangzhou, Guangdong, 510642, China., Zhang Y; Guangdong Basic Research Center of Excellence for Precise Breeding of Future Crops, State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Biology and Germplasm Enhancement of Horticultural Crops in (South China) at Ministry of Agriculture and Rural Affairs, College of Horticulture, South China Agricultural University, Guangzhou, Guangdong, 510642, China.; College of Agriculture, Guangxi University, Nanning, Guangxi, 530004, China., Meyers BC; Department of Plant Sciences, University of California Davis, Davis, CA, 95616, USA., Hao Y; Guangdong Basic Research Center of Excellence for Precise Breeding of Future Crops, State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Biology and Germplasm Enhancement of Horticultural Crops in (South China) at Ministry of Agriculture and Rural Affairs, College of Horticulture, South China Agricultural University, Guangzhou, Guangdong, 510642, China., Xia R; Guangdong Basic Research Center of Excellence for Precise Breeding of Future Crops, State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Key Laboratory of Biology and Germplasm Enhancement of Horticultural Crops in (South China) at Ministry of Agriculture and Rural Affairs, College of Horticulture, South China Agricultural University, Guangzhou, Guangdong, 510642, China.

Journal Article , 2025

Genetic variation in NSP4 of type 1 porcine reproductive and respiratory syndrome virus in China.

Sha H; Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Animal Science and Technology, Foshan University, Foshan, 528225, China., Lan X; Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Animal Science and Technology, Foshan University, Foshan, 528225, China., Yang Z; Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Animal Science and Technology, Foshan University, Foshan, 528225, China., Lv C; Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Animal Science and Technology, Foshan University, Foshan, 528225, China., Zhang H; Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Animal Science and Technology, Foshan University, Foshan, 528225, China., Luo Q; Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Animal Science and Technology, Foshan University, Foshan, 528225, China., Zheng Y; Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Animal Science and Technology, Foshan University, Foshan, 528225, China., Li G; Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Animal Science and Technology, Foshan University, Foshan, 528225, China., Kong W; Gladstone Institutes of Virology and Immunology, University of California, San Francisco, CA, 94158, USA., Huang L; Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Animal Science and Technology, Foshan University, Foshan, 528225, China., Ma J; Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Animal Science and Technology, Foshan University, Foshan, 528225, China. majun@fosu.edu.cn., Zhao M; Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Animal Science and Technology, Foshan University, Foshan, 528225, China. mengmengzhao2021@fosu.edu.cn.

Journal Article , 2025

Temporal Dynamics of Genetic Diversity in Protected and Unprotected Wild Rice (Oryza rufipogon) Populations: Implications for Conservation.

He ZZ; State Key Laboratory of Wetland Conservation and Restoration, National Observations and Research Station for Wetland Ecosystems of the Yangtze Estuary, Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, and Institute of eco-Chongming, School of Life Sciences, Fudan University, Shanghai, China., Shao WW; State Key Laboratory of Wetland Conservation and Restoration, National Observations and Research Station for Wetland Ecosystems of the Yangtze Estuary, Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, and Institute of eco-Chongming, School of Life Sciences, Fudan University, Shanghai, China.; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China., Honnay O; Division of Ecology, Evolution and Biodiversity Conservation, KU Leuven, Leuven, Belgium.; KU Leuven Plant Institute, Leuven, Belgium., Liao H; State Key Laboratory of Wetland Conservation and Restoration, National Observations and Research Station for Wetland Ecosystems of the Yangtze Estuary, Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, and Institute of eco-Chongming, School of Life Sciences, Fudan University, Shanghai, China., Chen H; State Key Laboratory of Wetland Conservation and Restoration, National Observations and Research Station for Wetland Ecosystems of the Yangtze Estuary, Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, and Institute of eco-Chongming, School of Life Sciences, Fudan University, Shanghai, China.; Fairy Lake Botanical Garden, Shenzhen & Chinese Academy of Sciences, Shenzhen, Guangdong, China., Liu J; State Key Laboratory of Wetland Conservation and Restoration, National Observations and Research Station for Wetland Ecosystems of the Yangtze Estuary, Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, and Institute of eco-Chongming, School of Life Sciences, Fudan University, Shanghai, China., Dong SS; Nanjing Institute of Environmental Sciences of the Ministry of Ecology and Environment, Nanjing, China., Li D; State Key Laboratory of Wetland Conservation and Restoration, National Observations and Research Station for Wetland Ecosystems of the Yangtze Estuary, Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, and Institute of eco-Chongming, School of Life Sciences, Fudan University, Shanghai, China., Fan GZ; State Key Laboratory of Wetland Conservation and Restoration, National Observations and Research Station for Wetland Ecosystems of the Yangtze Estuary, Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, and Institute of eco-Chongming, School of Life Sciences, Fudan University, Shanghai, China., Zhao Y; Jiangxi Province Key Laboratory of Watershed Ecosystem Change and Biodiversity, Center for Watershed Ecology, Institute of Life Science and School of Life Sciences, Nanchang University, Nanchang, China., Rong J; Jiangxi Province Key Laboratory of Watershed Ecosystem Change and Biodiversity, Center for Watershed Ecology, Institute of Life Science and School of Life Sciences, Nanchang University, Nanchang, China., Liu Y; Nanjing Institute of Environmental Sciences of the Ministry of Ecology and Environment, Nanjing, China., Lu F; State Key Laboratory of Wetland Conservation and Restoration, National Observations and Research Station for Wetland Ecosystems of the Yangtze Estuary, Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, and Institute of eco-Chongming, School of Life Sciences, Fudan University, Shanghai, China., Cui XH; Shanghai Academy of Landscape Architecture Science and Planning, Shanghai, China., Zhang WJ; State Key Laboratory of Wetland Conservation and Restoration, National Observations and Research Station for Wetland Ecosystems of the Yangtze Estuary, Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, and Institute of eco-Chongming, School of Life Sciences, Fudan University, Shanghai, China., Wang YG; State Key Laboratory of Wetland Conservation and Restoration, National Observations and Research Station for Wetland Ecosystems of the Yangtze Estuary, Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, and Institute of eco-Chongming, School of Life Sciences, Fudan University, Shanghai, China., Li LF; State Key Laboratory of Wetland Conservation and Restoration, National Observations and Research Station for Wetland Ecosystems of the Yangtze Estuary, Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, and Institute of eco-Chongming, School of Life Sciences, Fudan University, Shanghai, China., Yang J; State Key Laboratory of Wetland Conservation and Restoration, National Observations and Research Station for Wetland Ecosystems of the Yangtze Estuary, Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, and Institute of eco-Chongming, School of Life Sciences, Fudan University, Shanghai, China., Song ZP; State Key Laboratory of Wetland Conservation and Restoration, National Observations and Research Station for Wetland Ecosystems of the Yangtze Estuary, Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, and Institute of eco-Chongming, School of Life Sciences, Fudan University, Shanghai, China.

Journal Article , 2025

[Intraspecific variation of Forsythia suspensa chloroplast genome].

Li YH; School of Ecology and Nature Conservation, Beijing Forestry University Beijing 100083, China., Cao LL; School of Ecology and Nature Conservation, Beijing Forestry University Beijing 100083, China., Guo C; School of Ecology and Nature Conservation, Beijing Forestry University Beijing 100083, China., Wang YH; State Key Laboratory for Quality Ensurance and Sustainable Use of Dao-di Herbs, National Resource Center for Chinese Materia Medica, China Academy of Chinese Medical Sciences Beijing 100700, China., Liu D; Shandong Forest and Grass Germplasm Resource Center Ji'nan 250102, China., Sun JH; State Key Laboratory for Quality Ensurance and Sustainable Use of Dao-di Herbs, National Resource Center for Chinese Materia Medica, China Academy of Chinese Medical Sciences Beijing 100700, China., Wang S; State Key Laboratory for Quality Ensurance and Sustainable Use of Dao-di Herbs, National Resource Center for Chinese Materia Medica, China Academy of Chinese Medical Sciences Beijing 100700, China., Zhang GM; School of Ecology and Nature Conservation, Beijing Forestry University Beijing 100083, China., Dong WP; School of Ecology and Nature Conservation, Beijing Forestry University Beijing 100083, China.

English Abstract; Journal Article , 2025

Euthyroid hyperthyroxinemia: relevance of albumin and transthyretin genetic variations in a single centre experience.

Piva I; Endocrinology Unit, University Hospital of Padova, Padova, Italy; Familial Cancer Unit, Veneto Institute of Oncology Istituto Oncologico Veneto (IOV)-IRCSS, Padova, Italy., Barollo S; Endocrinology Unit, University Hospital of Padova, Padova, Italy; Department of Medicine (DIMED), University of Padua, Padova, Italy., Censi S; Endocrinology Unit, University Hospital of Padova, Padova, Italy; Department of Medicine (DIMED), University of Padua, Padova, Italy. Electronic address: simona.censi@unipd.it., Bertazza L; Endocrinology Unit, University Hospital of Padova, Padova, Italy; Department of Medicine (DIMED), University of Padua, Padova, Italy., Ruggeri E; Endocrinology Unit, University Hospital of Padova, Padova, Italy; Department of Medicine (DIMED), University of Padua, Padova, Italy., Clausi C; Endocrinology Unit, University Hospital of Padova, Padova, Italy; Department of Medicine (DIMED), University of Padua, Padova, Italy., Ferrara AM; Familial Cancer Unit, Veneto Institute of Oncology Istituto Oncologico Veneto (IOV)-IRCSS, Padova, Italy., Stefani A; Laboratory Medicine Unit, University Hospital of Padova, Padova, Italy., Mion MM; Laboratory Medicine Unit, University Hospital of Padova, Padova, Italy., Montagnana M; Department of Medicine (DIMED), University of Padua, Padova, Italy; Laboratory Medicine Unit, University Hospital of Padova, Padova, Italy., Mian C; Endocrinology Unit, University Hospital of Padova, Padova, Italy; Department of Medicine (DIMED), University of Padua, Padova, Italy.

Journal Article , 2025

Population sequencing for phylogenetic diversity and transmission analyses.

Pearson T; Pathogen and Microbiome Institute, Northern Arizona University, Flagstaff, AZ 86011., Furstenau T; Pathogen and Microbiome Institute, Northern Arizona University, Flagstaff, AZ 86011.; Health and Bioinformatics, School of Informatics, Computing, and Cyber Systems, Northern Arizona University, Flagstaff, AZ 86011., Wood C; Pathogen and Microbiome Institute, Northern Arizona University, Flagstaff, AZ 86011., Rigas V; Global and Tropical Health Division, Menzies School of Health Research, Darwin, NT 0811, Australia., Drake K; Pathogen and Microbiome Institute, Northern Arizona University, Flagstaff, AZ 86011., Sahl J; Pathogen and Microbiome Institute, Northern Arizona University, Flagstaff, AZ 86011., Maltinsky S; Pathogen and Microbiome Institute, Northern Arizona University, Flagstaff, AZ 86011., Currie BJ; Global and Tropical Health Division, Menzies School of Health Research, Darwin, NT 0811, Australia.; Infectious Diseases Department and Northern Territory Medical Program, Royal Darwin Hospital, Darwin, NT 0811, Australia., Mayo M; Global and Tropical Health Division, Menzies School of Health Research, Darwin, NT 0811, Australia., Hall C; Pathogen and Microbiome Institute, Northern Arizona University, Flagstaff, AZ 86011., Keim P; Pathogen and Microbiome Institute, Northern Arizona University, Flagstaff, AZ 86011., Fofanov V; Pathogen and Microbiome Institute, Northern Arizona University, Flagstaff, AZ 86011.; Health and Bioinformatics, School of Informatics, Computing, and Cyber Systems, Northern Arizona University, Flagstaff, AZ 86011.

Journal Article , 2025

Study design and the sampling of deleterious rare variants in biobank-scale datasets.

Steiner MC; Department of Human Genetics, University of Chicago, Chicago, IL 60637., Rice DP; Media Laboratory, Massachusetts Institute of Technology, Cambridge, MA 02139.; SecureBio, Cambridge, MA 02142., Biddanda A; Department of Biology, Johns Hopkins University, Baltimore, MD 21218., Ianni-Ravn MK; Department of Human Genetics, University of Chicago, Chicago, IL 60637., Porras C; Department of Genetics and Genomic Sciences, Icahn School of Medicine, New York, NY 10029., Novembre J; Department of Human Genetics, University of Chicago, Chicago, IL 60637.; Department of Ecology and Evolution, University of Chicago, Chicago, IL 60637.

Journal Article , 2025

Genome-wide identification and analysis of recurring patterns of epigenetic variation across individuals.

Zou J; Computer Science Department, University of California, Los Angeles, Los Angeles, CA, USA., Maciejewski E; Computer Science Department, University of California, Los Angeles, Los Angeles, CA, USA.; Biological Chemistry Department, University of California, Los Angeles, Los Angeles, CA, USA., Ernst J; Computer Science Department, University of California, Los Angeles, Los Angeles, CA, USA. jason.ernst@ucla.edu.; Biological Chemistry Department, University of California, Los Angeles, Los Angeles, CA, USA. jason.ernst@ucla.edu.; Department of Computational Medicine, University of California, Los Angeles, Los Angeles, CA, USA. jason.ernst@ucla.edu.; Molecular Biology Institute, University of California, Los Angeles, Los Angeles, CA, USA. jason.ernst@ucla.edu.; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at University of California, Los Angeles, Los Angeles, CA, USA. jason.ernst@ucla.edu.; Jonsson Comprehensive Cancer Center, University of California, Los Angeles, Los Angeles, CA, USA. jason.ernst@ucla.edu.

Journal Article , 2025

Molecular Evidence for Greater Diversity Within Acanthamoeba.

Corsaro D; CHLAREAS, 12, rue du Maconnais, Vandoeuvre-lès-Nancy, F-54500, France. corsaro@gmx.fr.

Journal Article , 2025

Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation.

Park MS; Institute for Public Health Genetics, University of Washington, Seattle, WA, USA., Kumar RD; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA., Ovadiuc C; Institute for Public Health Genetics, University of Washington, Seattle, WA, USA; Vaccine and Infectious Disease Division, Fred Hutchinson Cancer Center, Seatle, WA, USA., Folta A; Division of Medical Genetics, University of Washington, Seattle, WA, USA., McEwen AE; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA., Snyder A; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Villani RM; QIMR Berghofer, Brisbane, QLD, Australia., Spurdle AB; QIMR Berghofer, Brisbane, QLD, Australia; University of Queensland, Brisbane, QLD, Australia., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA; Department of Bioengineering, University of Washington, Seattle, WA, USA., Rubin AF; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia., Shirts BH; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Starita LM; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Electronic address: lstarita@uw.edu., Stergachis AB; Division of Medical Genetics, University of Washington, Seattle, WA, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Electronic address: absterga@uw.edu.

Journal Article , 2025

Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists.

Allen S; Division of Genetics and Epidemiology, the Institute of Cancer Research, London, UK., Garrett A; Division of Genetics and Epidemiology, the Institute of Cancer Research, London, UK; St George's University Hospitals NHS Foundation Trust, Tooting, London, UK., Rowlands CF; Division of Genetics and Epidemiology, the Institute of Cancer Research, London, UK., Durkie M; North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK., Burghel GJ; Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, UK; Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, the University of Manchester, Manchester, UK., Robinson R; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Callaway A; Central and South Genomics Laboratory Hub, Wessex Genomics Laboratory Service, University Hospital Southampton NHS Foundation Trust, Salisbury, UK., Field J; Genomics and Molecular Medicine Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Frugtniet B; St George's University Hospitals NHS Foundation Trust, Tooting, London, UK., Palmer-Smith S; Wales Genomic Health Centre, Cardiff and Vale University Health Board, Cardiff, UK., Grant J; Laboratory Genetics, Queen Elizabeth University Hospital, NHS Greater Glasgow and Clyde, Glasgow, UK., Pagan J; South East Scotland Clinical Genetics, Western General Hospital, Edinburgh, UK., McDevitt T; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Snape K; St George's University Hospitals NHS Foundation Trust, Tooting, London, UK., Hanson H; Peninsula Regional Genetics Service, Royal Devon University Healthcare National Health Service Foundation Trust, Exeter, UK; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, UK., McVeigh T; The Royal Marsden National Health Service Foundation Trust, Fulham Road, London, UK., Adams DJ; Wellcome Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK., Findlay GM; The Genome Function Laboratory, the Francis Crick Institute, London, UK., Villani RM; QIMR Berghofer, Brisbane, QLD, Australia., Spurdle AB; QIMR Berghofer, Brisbane, QLD, Australia; University of Queensland, Brisbane, QLD, Australia., Turnbull C; Division of Genetics and Epidemiology, the Institute of Cancer Research, London, UK; The Royal Marsden National Health Service Foundation Trust, Fulham Road, London, UK. Electronic address: turnbull.lab@icr.ac.uk.

CanVIG-UK Consortium

Journal Article , 2025

Consultation informs strategies for improving the use of functional evidence in variant classification.

Villani RM; QIMR Berghofer, Brisbane, QLD, Australia., Terrill B; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Clinical Translation and Engagement Platform, Garvan Institute of Medical Research, Sydney, NSW, Australia; Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia., Tudini E; QIMR Berghofer, Brisbane, QLD, Australia; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., McKenzie ME; QIMR Berghofer, Brisbane, QLD, Australia., Cliffe CC; Douglass Hanly Moir Pathology, Macquarie Park, NSW, Australia., Hahn CN; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Lundie B; Pathology Queensland, Queensland Health, Brisbane, QLD, Australia; The University of Queensland, Brisbane, QLD, Australia., Mattiske T; Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Australian Functional Genomics Network, Murdoch Children's Research Institute, Parkville, VIC, Australia., Matotek E; Australian Functional Genomics Network, Murdoch Children's Research Institute, Parkville, VIC, Australia., McEwen AE; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute, Seattle, WA, USA., Nickerson SL; Department of Diagnostic Genomics, PathWest, QEII Medical Centre, Perth, WA, Australia; The University of Western Australia, Perth, WA, Australia., Breen J; Black Ochre Data Labs (Indigenous Genomics), The Kids Research Institute Australia & Australian National University, Adelaide, SA, Australia; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia., Fowler DM; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute, Seattle, WA, USA; Department of Bioengineering, University of Washington, Seattle, WA, USA., Christodoulou J; Genomic Medicine Theme, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Starita L; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Brotman Baty Institute, Seattle, WA, USA., Rubin AF; The Walter and Eliza Hall Institute of Medical Research, University of Melbourne, Melbourne, VIC, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia. Electronic address: alan.rubin@wehi.edu.au., Spurdle AB; QIMR Berghofer, Brisbane, QLD, Australia; The University of Queensland, Brisbane, QLD, Australia. Electronic address: amanda.spurdle@qimrb.edu.au.

Journal Article , 2025

Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions.

Wei A; Interdepartmental Bioinformatics Program, UCLA, Los Angeles, CA, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Department of Computational Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Border R; Department of Computer Science, UCLA, Los Angeles, CA, USA.; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Fu B; Department of Computer Science, UCLA, Los Angeles, CA, USA., Cullina S; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Brandes N; Department of Epidemiology & Biostatistics, UCSF, San Francisco, CA, USA.; Department of Bioengineering & Therapeutic Sciences (HIVE), UCSF, San Francisco, CA, USA.; Bakar Computational Health Sciences Institute, UCSF, San Francisco, CA, USA., Jang SK; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Sankararaman S; Department of Computational Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Department of Computer Science, UCLA, Los Angeles, CA, USA., Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Division of Genomic Medicine, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Center for Translational Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Udler MS; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; The Broad Institute, Boston, MA, USA., Ntranos V; Department of Epidemiology & Biostatistics, UCSF, San Francisco, CA, USA.; Department of Bioengineering & Therapeutic Sciences (HIVE), UCSF, San Francisco, CA, USA.; Bakar Computational Health Sciences Institute, UCSF, San Francisco, CA, USA., Zaitlen N; Department of Computational Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Arboleda VA; Interdepartmental Bioinformatics Program, UCLA, Los Angeles, CA, USA. vaa2001@g.ucla.edu.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. vaa2001@g.ucla.edu.; Department of Computational Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. vaa2001@g.ucla.edu.; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. vaa2001@g.ucla.edu.

Journal Article , 2025

Morphological variation and genetic diversity of Circinaria contorta (Megasporaceae, Ascomycota), including C. contorta subsp. albida subsp. nov.

Szczepańska K; Department of Botany and Plant Ecology, Wrocław University of Environmental and Life Sciences, pl. Grunwaldzki 24a, Wrocław, PL-50-363, Poland. katarzyna.szczepanska@upwr.edu.pl., Guzow-Krzemińska B; Department of Plant Taxonomy and Nature Conservation, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, Gdańsk, PL-80-308, Poland. beata.guzow-krzeminska@ug.edu.pl., Sołtysiak J; Department of Botany and Plant Ecology, Wrocław University of Environmental and Life Sciences, pl. Grunwaldzki 24a, Wrocław, PL-50-363, Poland., Urbaniak J; Department of Botany and Plant Ecology, Wrocław University of Environmental and Life Sciences, pl. Grunwaldzki 24a, Wrocław, PL-50-363, Poland.

Journal Article , 2025

Core construction establishment for Ruchengbaimao tea based on SSR markers.

Liu Y; Key Laboratory of Tea Science of Ministry of Education, Hunan Agricultural University, Changsha, 410128, China.; National Research Center of Engineering and Technology for Utilization of Botanical Functional Ingredients, Hunan Agricultural University, Changsha, 410128, China., Zhang Y; Key Laboratory of Tea Science of Ministry of Education, Hunan Agricultural University, Changsha, 410128, China.; National Research Center of Engineering and Technology for Utilization of Botanical Functional Ingredients, Hunan Agricultural University, Changsha, 410128, China., Zhang X; Key Laboratory of Tea Science of Ministry of Education, Hunan Agricultural University, Changsha, 410128, China.; National Research Center of Engineering and Technology for Utilization of Botanical Functional Ingredients, Hunan Agricultural University, Changsha, 410128, China., Yi X; Key Laboratory of Tea Science of Ministry of Education, Hunan Agricultural University, Changsha, 410128, China.; National Research Center of Engineering and Technology for Utilization of Botanical Functional Ingredients, Hunan Agricultural University, Changsha, 410128, China., Luo F; College of Horticulture, Hunan Agricultural University, Changsha, 410128, China., Wen H; Key Laboratory of Tea Science of Ministry of Education, Hunan Agricultural University, Changsha, 410128, China.; National Research Center of Engineering and Technology for Utilization of Botanical Functional Ingredients, Hunan Agricultural University, Changsha, 410128, China.; Co-Innovation Center of Education Ministry for Utilization of Botanical Functional Ingredients, Hunan Agricultural University, Changsha, 410128, China.; Key Laboratory for Evaluation and Utilization of Gene Resources of Horticultural Crops, Hunan Agricultural University, Changsha, 410128, China., Yang P; Hunan Tea Research Institute, Hunan Academy of Agricultural Sciences, Changsha, 410128, China., Huang J; Key Laboratory of Tea Science of Ministry of Education, Hunan Agricultural University, Changsha, 410128, China.; National Research Center of Engineering and Technology for Utilization of Botanical Functional Ingredients, Hunan Agricultural University, Changsha, 410128, China.; Co-Innovation Center of Education Ministry for Utilization of Botanical Functional Ingredients, Hunan Agricultural University, Changsha, 410128, China.; Key Laboratory for Evaluation and Utilization of Gene Resources of Horticultural Crops, Hunan Agricultural University, Changsha, 410128, China., Liu Z; Key Laboratory of Tea Science of Ministry of Education, Hunan Agricultural University, Changsha, 410128, China. zhonghua-liu-ms@hunau.edu.cn.; National Research Center of Engineering and Technology for Utilization of Botanical Functional Ingredients, Hunan Agricultural University, Changsha, 410128, China. zhonghua-liu-ms@hunau.edu.cn.; Co-Innovation Center of Education Ministry for Utilization of Botanical Functional Ingredients, Hunan Agricultural University, Changsha, 410128, China. zhonghua-liu-ms@hunau.edu.cn.; Key Laboratory for Evaluation and Utilization of Gene Resources of Horticultural Crops, Hunan Agricultural University, Changsha, 410128, China. zhonghua-liu-ms@hunau.edu.cn., Li J; Key Laboratory of Tea Science of Ministry of Education, Hunan Agricultural University, Changsha, 410128, China. xixi_lj@hunau.edu.cn.; National Research Center of Engineering and Technology for Utilization of Botanical Functional Ingredients, Hunan Agricultural University, Changsha, 410128, China. xixi_lj@hunau.edu.cn.; Co-Innovation Center of Education Ministry for Utilization of Botanical Functional Ingredients, Hunan Agricultural University, Changsha, 410128, China. xixi_lj@hunau.edu.cn.; Key Laboratory for Evaluation and Utilization of Gene Resources of Horticultural Crops, Hunan Agricultural University, Changsha, 410128, China. xixi_lj@hunau.edu.cn., Xiong L; Key Laboratory of Tea Science of Ministry of Education, Hunan Agricultural University, Changsha, 410128, China. xiongligui@hunau.edu.cn.; National Research Center of Engineering and Technology for Utilization of Botanical Functional Ingredients, Hunan Agricultural University, Changsha, 410128, China. xiongligui@hunau.edu.cn.; Co-Innovation Center of Education Ministry for Utilization of Botanical Functional Ingredients, Hunan Agricultural University, Changsha, 410128, China. xiongligui@hunau.edu.cn.; Key Laboratory for Evaluation and Utilization of Gene Resources of Horticultural Crops, Hunan Agricultural University, Changsha, 410128, China. xiongligui@hunau.edu.cn.

Journal Article , 2025

Exceptionally low genomic diversity in the underutilised legume Kersting's groundnut.

Cheung TY; School of Life Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China.; Center for Soybean Research of the State Key Laboratory of Agrobiotechnology, The Chinese University of Hong Kong, Hong Kong SAR, China., Kafoutchoni KM; Non-Timber Forest Product and Orphan Crop Species Unit, Laboratory of Applied Ecology, Faculty of Agronomic Sciences, University of Abomey-Calavi, Abomey-Calavi, Benin., Agoyi EE; Non-Timber Forest Product and Orphan Crop Species Unit, Laboratory of Applied Ecology, Faculty of Agronomic Sciences, University of Abomey-Calavi, Abomey-Calavi, Benin., Chan TF; School of Life Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China.; Center for Soybean Research of the State Key Laboratory of Agrobiotechnology, The Chinese University of Hong Kong, Hong Kong SAR, China., Chapman MA; School of Biological Sciences, University of Southampton, Southampton, UK. m.chapman@soton.ac.uk.

Journal Article , 2025

Cryptic absence and genetic variation of Plasmodium falciparum PfHRP2 and PfHRP3 from isolates in Papua, Indonesia.

Puspitasari AM; Exeins Health Initiative, Jakarta, Indonesia., Sutanto E; Exeins Health Initiative, Jakarta, Indonesia., Syauqi K; Indonesia International Institute of Life Sciences, Jakarta, Indonesia., Amalia R; Exeins Health Initiative, Jakarta, Indonesia., Nisa FA; Exeins Health Initiative, Jakarta, Indonesia., Trianty L; Eijkman Research Center for Molecular Biology-BRIN, Cibinong, Indonesia., Sidhartha E; Indonesia International Institute of Life Sciences, Jakarta, Indonesia., Kenangalem E; Papuan Community Health and Development Foundation, Timika, Papua, Indonesia., Poespoprodjo JR; Papuan Community Health and Development Foundation, Timika, Papua, Indonesia., Ahmed R; Exeins Health Initiative, Jakarta, Indonesia., Owusu E; Foundation for Innovative New Diagnostics (FIND), Geneva, Switzerland.; School of Biomedical and Allied Health Sciences, College of Health Sciences, University of Ghana, Accra, Ghana., Carlier L; Foundation for Innovative New Diagnostics (FIND), Geneva, Switzerland., Tetteh KKA; Foundation for Innovative New Diagnostics (FIND), Geneva, Switzerland., Cheng Q; Drug Resistance and Diagnostics, Australian Defence Force Malaria and Infectious Disease Institute, Brisbane, Australia., Noviyanti R; Eijkman Research Center for Molecular Biology-BRIN, Cibinong, Indonesia. rnoviyanti2@gmail.com.

Journal Article , 2025