Sökresultat - "polymorphism, single nucleotide"

Heritable Genetic Variability in Ovarian Tumours: Exploring Venous Thromboembolism Susceptibility and Cancer Prognosis in a Hospital-Based Study.

Tavares V; Molecular Oncology and Viral Pathology Group, Research Center of IPO Porto (CI-IPOP)/Pathology and Laboratory Medicine Dep., Clinical Pathology SV/CI-IPOP @RISE(Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Centre (Porto. CCC), 4200-072 Porto, Portugal; ICBAS - Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, 4050-313 Porto, Portugal; Faculty of Medicine, University of Porto (FMUP), 4200-072 Porto, Portugal., Savva-Bordalo J; Department of Medical Oncology, Portuguese Institute of Oncology of Porto (IPO Porto), 4200-072 Porto, Portugal., Rei M; Department of Gynaecology, Portuguese Institute of Oncology of Porto (IPO Porto), 4200-072 Porto, Portugal., Liz-Pimenta J; Faculty of Medicine, University of Porto (FMUP), 4200-072 Porto, Portugal; Department of Medical Oncology, Portuguese Institute of Oncology of Porto (IPO Porto), 4200-072 Porto, Portugal., Assis J; Clinical Research Unit, Research Center of IPO Porto (CI-IPOP)/CI-IPOP@RISE (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Center (Porto. CCC), 4200-072 Porto, Portugal., Pereira D; Department of Medical Oncology, Portuguese Institute of Oncology of Porto (IPO Porto), 4200-072 Porto, Portugal., Medeiros R; Molecular Oncology and Viral Pathology Group, Research Center of IPO Porto (CI-IPOP)/Pathology and Laboratory Medicine Dep., Clinical Pathology SV/CI-IPOP @RISE(Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Centre (Porto. CCC), 4200-072 Porto, Portugal; ICBAS - Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, 4050-313 Porto, Portugal; Faculty of Medicine, University of Porto (FMUP), 4200-072 Porto, Portugal; Faculty of Health Sciences, Fernando Pessoa University, 4200-150 Porto, Portugal; Research Department, Portuguese League Against Cancer (NRNorte), 4200-172 Porto, Portugal. Electronic address: ruimedei@ipoporto.min-saude.pt.

Journal Article , 2025

Genetic Variants Associated With Preeclampsia and Maternal Serum sFLT1 Levels.

Mack JA; Department of Obstetrics and Gynaecology, School of Clinical Medicine (J.A.M., U.S., F.G., E.C., D.S.C.-J., G.C.S.S.), University of Cambridge, United Kingdom.; Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC (J.A.M., A.A.M.-R.)., Sovio U; Department of Obstetrics and Gynaecology, School of Clinical Medicine (J.A.M., U.S., F.G., E.C., D.S.C.-J., G.C.S.S.), University of Cambridge, United Kingdom.; Department of Physiology, Development, and Neuroscience, The Loke Centre for Trophoblast Research (U.S., F.G., D.S.C.-J., G.C.S.S.), University of Cambridge, United Kingdom., Day FR; MRC Epidemiology Unit, Wellcome-MRC Institute of Metabolic Science (F.R.D., J.R.B.P.), University of Cambridge, United Kingdom., Gaccioli F; Department of Obstetrics and Gynaecology, School of Clinical Medicine (J.A.M., U.S., F.G., E.C., D.S.C.-J., G.C.S.S.), University of Cambridge, United Kingdom.; Department of Physiology, Development, and Neuroscience, The Loke Centre for Trophoblast Research (U.S., F.G., D.S.C.-J., G.C.S.S.), University of Cambridge, United Kingdom., Cook E; Department of Obstetrics and Gynaecology, School of Clinical Medicine (J.A.M., U.S., F.G., E.C., D.S.C.-J., G.C.S.S.), University of Cambridge, United Kingdom., Bayzid N; Department of Genetics and Genomic Medicine, UCL Genomics, University College London, United Kingdom (N.B., M.C., N.J.D., G.M.)., Cotic M; Department of Genetics and Genomic Medicine, UCL Genomics, University College London, United Kingdom (N.B., M.C., N.J.D., G.M.)., Dunton NJ; Department of Genetics and Genomic Medicine, UCL Genomics, University College London, United Kingdom (N.B., M.C., N.J.D., G.M.)., Madhan G; Department of Genetics and Genomic Medicine, UCL Genomics, University College London, United Kingdom (N.B., M.C., N.J.D., G.M.)., Motsinger-Reif AA; Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC (J.A.M., A.A.M.-R.)., Perry JRB; MRC Epidemiology Unit, Wellcome-MRC Institute of Metabolic Science (F.R.D., J.R.B.P.), University of Cambridge, United Kingdom.; Metabolic Research Laboratory, Wellcome-MRC Institute of Metabolic Science (J.R.B.P.), University of Cambridge, United Kingdom., Charnock-Jones DS; Department of Obstetrics and Gynaecology, School of Clinical Medicine (J.A.M., U.S., F.G., E.C., D.S.C.-J., G.C.S.S.), University of Cambridge, United Kingdom.; Department of Physiology, Development, and Neuroscience, The Loke Centre for Trophoblast Research (U.S., F.G., D.S.C.-J., G.C.S.S.), University of Cambridge, United Kingdom., Smith GCS; Department of Obstetrics and Gynaecology, School of Clinical Medicine (J.A.M., U.S., F.G., E.C., D.S.C.-J., G.C.S.S.), University of Cambridge, United Kingdom.; Department of Physiology, Development, and Neuroscience, The Loke Centre for Trophoblast Research (U.S., F.G., D.S.C.-J., G.C.S.S.), University of Cambridge, United Kingdom.

Journal Article , 2025

Human-genetic variants associated with susceptibility to SARS-CoV-2 infection.

Azcarate D; BIOMICs Research Group (BIOMICS and Microfluidics cluster), Zoology and animal cellular biology department, Faculty of Science and Technology (UPV/EHU), 48940 Leioa, Biscay (Basque Country), Spain., Olasagasti Arsuaga F; BIOMICs Research Group (BIOMICS and Microfluidics cluster), Biochemistry and molecular biology department, Faculty of Pharmacy (UPV/EHU), 01006 Vitoria-Gasteiz, Alava (Basque Country), Spain. Electronic address: felix.olasagasti@ehu.eus., Granizo Rodriguez E; BIOMICs Research Group (BIOMICS and Microfluidics cluster), Zoology and animal cellular biology department, Faculty of Science and Technology (UPV/EHU), 48940 Leioa, Biscay (Basque Country), Spain., Arana-Arri E; Clinical Epidemiology Unit, Cruces University Hospital, 48903 Barakaldo, Biscay (Basque Country), Spain., España PP; Pulmonology Service, Galdakao-Usansolo University Hospital, 48960 Galdakao, Biscay (Basque Country), Spain., Intxausti M; Pulmonology Service, Alava University Hospital - Txagorritxu, 01009 Vitoria-Gasteiz, Álava (Basque Country), Spain., Sancho C; Department of Pneumology, Basurto University Hospital, 48013 Bilbao, Biscay (Basque Country), Spain., García de Vicuña Meléndez A; Emergency Department, Gurutzeta Hospital Basque Health Service, 48903 Barakaldo, Biscay (Basque Country), Spain., Ibarrondo O; Consultant in Statistics and Health Economics Research, Debagoiena AP-OSI Research Unit, 20500 Arrasate, Gipuzkoa (Basque Country), Spain., M de Pancorbo M; BIOMICs Research Group (BIOMICS and Microfluidics cluster), Zoology and animal cellular biology department, Faculty of Science and Technology (UPV/EHU), 48940 Leioa, Biscay (Basque Country), Spain. Electronic address: marianpancorbo@gmail.com.

Journal Article , 2025

Pharmacogenomic variants in the Pumi population from Yunnan, China.

Yang X; Department of blood transfusion, The First People's Hospital of Yunnan Province. The Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, Yunnan, China., Cheng Y; Department of blood transfusion, The First People's Hospital of Yunnan Province. The Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, Yunnan, China., Li Q; Department of blood transfusion, The First People's Hospital of Yunnan Province. The Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, Yunnan, China., Chen W; Department of blood transfusion, The First People's Hospital of Yunnan Province. The Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, Yunnan, China., Wang Y; Department of blood transfusion, The First People's Hospital of Yunnan Province. The Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, Yunnan, China., Zhang C; Department of blood transfusion, The First People's Hospital of Yunnan Province. The Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, Yunnan, China. Electronic address: zhangchanyzt@163.com., Zhang X; Maternal and Child Health Service Center of Nujiang Autonomous Prefecture, Lushui 673599, Yunnan, China. Electronic address: 19863426@qq.com.

Journal Article , 2025

Analyzing the role of genetic variants in microRNAs and its role as a modulator towards Chronic Obstructive Pulmonary disease (COPD) susceptibility in North Indian population.

Bhatia A; Department of Biotechnology, Thapar Institute of Engineering & Technology, Patiala, India., Upadhyay AK; Department of Biotechnology, Thapar Institute of Engineering & Technology, Patiala, India., Garg K; Department of Pulmonary Medicine, Government Medical College, Patiala, India., Chopra V; Department of Pulmonary Medicine, Government Medical College, Patiala, India., Sharma S; Department of Biotechnology, Thapar Institute of Engineering & Technology, Patiala, India. Electronic address: siddharthsharma.phd@thapar.edu.

Journal Article , 2025

PCR-based SNP genotyping: A comprehensive comparison of methods for affordable and accurate detection of class IV mutations.

Muneeswaran K; Department of Chemistry, Faculty of Science, University of Colombo, Sri Lanka. Electronic address: kajan89@chem.cmb.ac.lk., de Silva VA; Faculty of Medicine, University of Colombo, Sri Lanka., Branavan U; Department of Obstetrics and Gynecology, Faculty of Medicine, University of Colombo, Sri Lanka., Dayabandara M; Department of Psychiatry, Faculty of Medicine, University of Colombo, Sri Lanka., Hanwella R; Faculty of Medicine, University of Colombo, Sri Lanka., Chandrasekharan NV; Sri Lanka Institute of Biotechnology, Pitipana, Homagama, Sri Lanka.

Journal Article; Comparative Study , 2025

Twin Study Provides Heritability Estimates for 2321 Plasma Proteins and Assesses Missing SNP Heritability.

Drouard G; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki 00014, Finland., Hagenbeek FA; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki 00014, Finland., Ollikainen M; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki 00014, Finland.; Minerva Foundation Institute for Medical Research, Helsinki 00290, Finland., Zheng Z; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, United States., Wang X; Georgia Prevention Institute, Medical College of Georgia, Augusta University, Augusta, Georgia 30912, United States., Ripatti S; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki 00014, Finland.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, United States.; Public Health, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland., Pirinen M; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki 00014, Finland.; Public Health, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland.; Department of Mathematics and Statistics, University of Helsinki, Helsinki 00014, Finland., Kaprio J; Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki 00014, Finland.

FinnGen; A complete list of the members of the FinnGen banner can be found in the Acknowledgements section.

Journal Article; Twin Study , 2025

Screening of glioma susceptibility SNPs and construction of risk models based on machine learning algorithms.

Hu M; Department of Neurosurgery, Xi'an Central Hospital, Xi'an, 710003, China. humingjun2020@163.com.; School of Medicine, Northwest University, Xi'an, 710069, China. humingjun2020@163.com.; Department of Neurosurgery, Xi'an Chest Hospital, Xi'an, 710100, China. humingjun2020@163.com., Hao J; College of Life Sciences, Northwest University, Xi'an, 710069, China., Wei J; College of Life Sciences, Northwest University, Xi'an, 710069, China.

Journal Article , 2025

Detecting genetic interactions with visible neural networks.

van Hilten A; Department of Radiology and Nuclear Medicine, Erasmus MC, Rotterdam, Netherlands. a.vanhilten@erasmusmc.nl., Melograna F; BIO3 - Laboratory for Systems Medicine, Department of Human Genetics, KU Leuven, Leuven, Belgium. federico.melograna@kuleuven.be.; BIO3 - Laboratory for Systems Genetics, GIGA-R Molecular and Computational Biology, University of Liège, Liège, Belgium. federico.melograna@kuleuven.be., Fan B; Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland., Niessen W; Department of Radiology and Nuclear Medicine, Erasmus MC, Rotterdam, Netherlands.; Department of Imaging Physics, Delft University of Technology, Delft, Netherlands., van Steen K; BIO3 - Laboratory for Systems Medicine, Department of Human Genetics, KU Leuven, Leuven, Belgium. kristel.vansteen@uliege.be.; BIO3 - Laboratory for Systems Genetics, GIGA-R Molecular and Computational Biology, University of Liège, Liège, Belgium. kristel.vansteen@uliege.be., Roshchupkin G; Department of Radiology and Nuclear Medicine, Erasmus MC, Rotterdam, Netherlands. g.roshchupkin@erasmusmc.nl.; Department of Epidemiology, Erasmus MC, Rotterdam, Netherlands. g.roshchupkin@erasmusmc.nl.

Journal Article , 2025

Case-control study combined with machine learning techniques to identify key genetic variations in GSK3B that affect susceptibility to diabetic kidney diseases.

Song J; Jiangsu Key Laboratory of New Drug Research and Clinical Pharmacy, Xuzhou Medical University, No.209, Tongshan Road, Xuzhou, China.; Department of Pharmacy, Affiliated Hospital of Jiangnan University, Wuxi, China., Xu Y; Phase I Clinical Trial Center, Affiliated Lianyungang Hospital of Xuzhou Medical University, Lianyungang, China., Xu L; Jiangsu Key Laboratory of New Drug Research and Clinical Pharmacy, Xuzhou Medical University, No.209, Tongshan Road, Xuzhou, China., Yang T; Jiangsu Key Laboratory of New Drug Research and Clinical Pharmacy, Xuzhou Medical University, No.209, Tongshan Road, Xuzhou, China., Chen Y; Department of Endocrinology, Affiliated Hospital of Jiangnan University, Wuxi, China., Ying C; Department of Endocrinology, Affiliated Hospital of Xuzhou Medical University, Xuzhou, China., Lu Q; Jiangsu Key Laboratory of New Drug Research and Clinical Pharmacy, Xuzhou Medical University, No.209, Tongshan Road, Xuzhou, China., Wang T; Jiangsu Key Laboratory of New Drug Research and Clinical Pharmacy, Xuzhou Medical University, No.209, Tongshan Road, Xuzhou, China. 9862022071@jiangnan.edu.cn.; Department of Pharmacy, Affiliated Hospital of Xuzhou Medical University, Xuzhou, China. 9862022071@jiangnan.edu.cn., Yin X; Jiangsu Key Laboratory of New Drug Research and Clinical Pharmacy, Xuzhou Medical University, No.209, Tongshan Road, Xuzhou, China. xiaoxing_yin@163.com.

Journal Article , 2025

The PeachSNP170K array facilitates insights into a large-scale population relatedness and genetic impacts on citrate content and flowering time.

Xu Y; Institute of Biotechnology, Beijing Academy of Agriculture and Forestry Sciences/Beijing Key Laboratory of Agricultural Genetic Resources and Biotechnology/Beijing Key Laboratory of Crop Molecular Design and Intelligent Breeding, Beijing, 100097, China., Yu Y; Institute of Biotechnology, Beijing Academy of Agriculture and Forestry Sciences/Beijing Key Laboratory of Agricultural Genetic Resources and Biotechnology/Beijing Key Laboratory of Crop Molecular Design and Intelligent Breeding, Beijing, 100097, China., Qi X; Institute of Biotechnology, Beijing Academy of Agriculture and Forestry Sciences/Beijing Key Laboratory of Agricultural Genetic Resources and Biotechnology/Beijing Key Laboratory of Crop Molecular Design and Intelligent Breeding, Beijing, 100097, China., Zhang Q; Institute of Biotechnology, Beijing Academy of Agriculture and Forestry Sciences/Beijing Key Laboratory of Agricultural Genetic Resources and Biotechnology/Beijing Key Laboratory of Crop Molecular Design and Intelligent Breeding, Beijing, 100097, China., Guan J; Institute of Biotechnology, Beijing Academy of Agriculture and Forestry Sciences/Beijing Key Laboratory of Agricultural Genetic Resources and Biotechnology/Beijing Key Laboratory of Crop Molecular Design and Intelligent Breeding, Beijing, 100097, China., Zhang Z; Institute of Biotechnology, Beijing Academy of Agriculture and Forestry Sciences/Beijing Key Laboratory of Agricultural Genetic Resources and Biotechnology/Beijing Key Laboratory of Crop Molecular Design and Intelligent Breeding, Beijing, 100097, China., Wei J; Institute of Biotechnology, Beijing Academy of Agriculture and Forestry Sciences/Beijing Key Laboratory of Agricultural Genetic Resources and Biotechnology/Beijing Key Laboratory of Crop Molecular Design and Intelligent Breeding, Beijing, 100097, China. weijianhua@baafs.net.cn., Xie H; Institute of Biotechnology, Beijing Academy of Agriculture and Forestry Sciences/Beijing Key Laboratory of Agricultural Genetic Resources and Biotechnology/Beijing Key Laboratory of Crop Molecular Design and Intelligent Breeding, Beijing, 100097, China. xiehua@baafs.net.cn.

Journal Article , 2025

MTNR1B variants increase gestational diabetes mellitus risk in young Chinese pregnant women.

Zeng Q; Department of Internal Medicine, Shunde Women and Children's Hospital (Maternity and Child Healthcare Hospital of Shunde Foshan), Guangdong Medical University, Foshan, Guangdong, China.; Key Laboratory of Research in Maternal and Child Medicine and Birth Defects, Guangdong Medical University, Foshan, Guangdong, China., Liu X; Department of Internal Medicine, Shunde Women and Children's Hospital (Maternity and Child Healthcare Hospital of Shunde Foshan), Guangdong Medical University, Foshan, Guangdong, China.; Key Laboratory of Research in Maternal and Child Medicine and Birth Defects, Guangdong Medical University, Foshan, Guangdong, China., Liu J; Department of Internal Medicine, Shunde Women and Children's Hospital (Maternity and Child Healthcare Hospital of Shunde Foshan), Guangdong Medical University, Foshan, Guangdong, China.; Key Laboratory of Research in Maternal and Child Medicine and Birth Defects, Guangdong Medical University, Foshan, Guangdong, China., Wu Y; Department of Internal Medicine, Shunde Women and Children's Hospital (Maternity and Child Healthcare Hospital of Shunde Foshan), Guangdong Medical University, Foshan, Guangdong, China.; Key Laboratory of Research in Maternal and Child Medicine and Birth Defects, Guangdong Medical University, Foshan, Guangdong, China., Zhang Y; Department of Internal Medicine, Shunde Women and Children's Hospital (Maternity and Child Healthcare Hospital of Shunde Foshan), Guangdong Medical University, Foshan, Guangdong, China.; Key Laboratory of Research in Maternal and Child Medicine and Birth Defects, Guangdong Medical University, Foshan, Guangdong, China., He Z; Department of Internal Medicine, Shunde Women and Children's Hospital (Maternity and Child Healthcare Hospital of Shunde Foshan), Guangdong Medical University, Foshan, Guangdong, China.; Key Laboratory of Research in Maternal and Child Medicine and Birth Defects, Guangdong Medical University, Foshan, Guangdong, China., Wei Y; Department of Ultrasound, Shunde Women and Children's Hospital (Maternity and Child Healthcare Hospital of Shunde Foshan), Guangdong Medical University, Foshan, Guangdong, China., Zeng G; Department of Biology & Pharmacy, Yulin Normal University, Yulin, Guangxi, China. guofz0016@ylu.edu.cn., Zou D; The First Affiliated Hospital of Jinan University, and Guangdong Engineering Research Center of Chinese Medicine & Disease Susceptibility, Jinan University, Guangzhou, Guangdong, China. zoudehua1991@163.com.; Department of Orthopedics, Foshan Fosun Chancheng Hospital, Foshan, Guangdong, China. zoudehua1991@163.com., Guo R; Department of Internal Medicine, Shunde Women and Children's Hospital (Maternity and Child Healthcare Hospital of Shunde Foshan), Guangdong Medical University, Foshan, Guangdong, China. runmin.guo@gdmu.edu.cn.; Key Laboratory of Research in Maternal and Child Medicine and Birth Defects, Guangdong Medical University, Foshan, Guangdong, China. runmin.guo@gdmu.edu.cn.

Journal Article , 2025

Association between OX40L rs1234314 and rs844648 polymorphisms and unexplained recurrent pregnancy loss.

Taşdelen E; Department of Medical Genetics, Ankara University School of Medicine, Ankara Etlik City Hospital, Varlık, Ankara, Turkey. elifcan.tasdelen@saglik.gov.tr.; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Turkey. elifcan.tasdelen@saglik.gov.tr., Kutlay NY; Department of Medical Genetics, Ankara University School of Medicine, Ankara Etlik City Hospital, Varlık, Ankara, Turkey., Kaplan İ; Department of Medical Genetics, Ankara University School of Medicine, Ankara Etlik City Hospital, Varlık, Ankara, Turkey.; Department of Medical Genetics, Adana Etlik City Hospital, Adana, Turkey., Altıner Ş; Department of Medical Genetics, Ankara University School of Medicine, Ankara Etlik City Hospital, Varlık, Ankara, Turkey.; Department of Medical Genetics, Trabzon Kanuni Training and Research Hospital, Trabzon, Turkey., Alay MT; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Turkey.

Journal Article , 2025

ABO exon polymorphisms are related to ischemic stroke in a Chinese Han population.

Zhong Y; Department of General Practice, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, No. 19, Xiuhua Road, Xiuying District, Haikou, Hainan, 570311, China., Lin M; Department of General Practice, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, No. 19, Xiuhua Road, Xiuying District, Haikou, Hainan, 570311, China., Zhou X; Department of General Practice, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, No. 19, Xiuhua Road, Xiuying District, Haikou, Hainan, 570311, China., He C; Department of General Practice, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, No. 19, Xiuhua Road, Xiuying District, Haikou, Hainan, 570311, China., Lin Q; Department of General Practice, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, No. 19, Xiuhua Road, Xiuying District, Haikou, Hainan, 570311, China., Li Q; Department of General Practice, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, No. 19, Xiuhua Road, Xiuying District, Haikou, Hainan, 570311, China. liquanni6868@163.com., Ding Y; Department of General Practice, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, No. 19, Xiuhua Road, Xiuying District, Haikou, Hainan, 570311, China. dyp2507@hainmc.edu.cn.

Journal Article , 2025

A scalable distributed pipeline for reference-free variants calling.

Di Rocco L; Department of Statistical Sciences, Sapienza University of Rome, Rome, Italy. lorenzo.dirocco@uniroma1.it., Ferraro Petrillo U; Department of Statistical Sciences, Sapienza University of Rome, Rome, Italy.

Journal Article , 2025

Screening of a core SNP set for the seedling identification of Saccharina japonica cultivars in northern China.

Wang X; Marine Science Research Institute of Shandong Province, Qingdao, Shandong, China., Song A; Marine Science Research Institute of Shandong Province, Qingdao, Shandong, China., Zhao W; Marine Science Research Institute of Shandong Province, Qingdao, Shandong, China., Liu X; Marine Science Research Institute of Shandong Province, Qingdao, Shandong, China., Lü F; Marine Science Research Institute of Shandong Province, Qingdao, Shandong, China.

Journal Article , 2025

Integrating SNP data to reveal the adaptive selection features of goat populations in extreme environments.

Wang W; Department of Animal Genetics, Breeding and Reproduction, College of Animal Science, Shanxi Agricultural University, Taigu, 030801, China., Cai K; Department of Animal Genetics, Breeding and Reproduction, College of Animal Science, Shanxi Agricultural University, Taigu, 030801, China., Fan M; Department of Animal Genetics, Breeding and Reproduction, College of Animal Science, Shanxi Agricultural University, Taigu, 030801, China., Pang Z; Department of Animal Genetics, Breeding and Reproduction, College of Animal Science, Shanxi Agricultural University, Taigu, 030801, China., Pan Y; Department of Animal Genetics, Breeding and Reproduction, College of Animal Science, Shanxi Agricultural University, Taigu, 030801, China., Cheng L; Shanxi Animal Husbandry Technology Extension Service Center, Taiyuan, 030001, China., Qiao L; Department of Animal Genetics, Breeding and Reproduction, College of Animal Science, Shanxi Agricultural University, Taigu, 030801, China., Wang R; Academy of Chinese Medical Sciences, Henan University of Chinese Medicine, Zhengzhou, 450046, China., Liu W; Department of Animal Genetics, Breeding and Reproduction, College of Animal Science, Shanxi Agricultural University, Taigu, 030801, China.; Shanxi Key Laboratory of Animal Genetics Resource Utilization and Breeding, Taigu, 030801, China., Liu J; Department of Animal Genetics, Breeding and Reproduction, College of Animal Science, Shanxi Agricultural University, Taigu, 030801, China. ljhbeth@163.com.; Shanxi Key Laboratory of Animal Genetics Resource Utilization and Breeding, Taigu, 030801, China. ljhbeth@163.com.

Journal Article , 2025

Several Common Genetic Variations Associate With Functional or Anatomic Effects of Anti-VEGF Treatment in Conditions With Macular Edema.

Klaassen I; Ocular Angiogenesis Group, Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Microcirculation, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.; Cellular & Molecular Mechanisms, Amsterdam Neuroscience, Amsterdam, The Netherlands., Vader MJC; Ocular Angiogenesis Group, Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Aissa K; Ocular Angiogenesis Group, Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Tanck MWT; Department of Epidemiology and Data Science, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Schlingemann RO; Ocular Angiogenesis Group, Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Microcirculation, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.; Cellular & Molecular Mechanisms, Amsterdam Neuroscience, Amsterdam, The Netherlands.; Department of Ophthalmology, University of Lausanne, Jules-Gonin Eye Hospital, Lausanne, Switzerland.

BRAMD, BRVO, and BRDME Study Groups

Journal Article; Meta-Analysis , 2025

Development of a panel of SNP loci in the emblematic southern damselfly (Coenagrion mercuriale) using a hybrid method: pitfalls and recommendations for large-scale SNP genotyping in a nonmodel endangered species.

Lévêque A; Univ. Lille, CNRS, UMR 8198 - Evo-Eco-Paleo, Lille, France.; Office de Génie Écologique (O.G.E.), Strasbourg, France., Arnaud JF; Univ. Lille, CNRS, UMR 8198 - Evo-Eco-Paleo, Lille, France., Vignon V; Office de Génie Écologique (O.G.E.), Strasbourg, France.; ALKIOS, Avignon, France., Mazoyer C; Univ. Lille, CNRS, UMR 8198 - Evo-Eco-Paleo, Lille, France., Godé C; Univ. Lille, CNRS, UMR 8198 - Evo-Eco-Paleo, Lille, France., Duputié A; Univ. Lille, CNRS, UMR 8198 - Evo-Eco-Paleo, Lille, France.

Journal Article , 2025

Analytical validation of germline small variant detection using long-read HiFi genome sequencing.

Hammond N; Clinical Genomics Laboratory, Stanford Medicine, Palo Alto, California 94304, USA., Liao L; Clinical Genomics Laboratory, Stanford Medicine, Palo Alto, California 94304, USA., Tong PW; Clinical Genomics Laboratory, Stanford Medicine, Palo Alto, California 94304, USA., Ng Z; Clinical Genomics Laboratory, Stanford Medicine, Palo Alto, California 94304, USA., Nguyen TP; Department of Pathology, Stanford University, Stanford, California 94305, USA., Ho C; Clinical Genomics Laboratory, Stanford Medicine, Palo Alto, California 94304, USA., Yang Y; Clinical Genomics Laboratory, Stanford Medicine, Palo Alto, California 94304, USA.; Department of Pathology, Stanford University, Stanford, California 94305, USA., Scott SA; Clinical Genomics Laboratory, Stanford Medicine, Palo Alto, California 94304, USA; sascott@stanford.edu.; Department of Pathology, Stanford University, Stanford, California 94305, USA.

Journal Article; Validation Study , 2025