Search Results - "massive parallel sequencing"

Rare Forms of Autosomal Recessive Spinocerebellar Ataxia Associated with Mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) Genes

Nuzhnyi, E. P.^{Aff1, IDs11055025017645_cor1}, Protopopova, A. O., Abramycheva, N. Yu., Protsenko, A. R., Illarioshkin, S. N.

Great Bolgar’s historical genetics: a genomic study of individuals from burials close to the Greek Chamber in the 14th century

T. V. Andreeva, A. D. Soshkina, S. S. Kunizheva, A. D. Manakhov, D. V. Pezhemsky, E. I. Rogaev

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The Unholy Grail of cancer screening: or is it just about the Benjamins?

Chatanaka, Miyo K.^{j_cclm-2024-1013_aff_001}, Yousef, George M.^{j_cclm-2024-1013_aff_002}, Diamandis, Eleftherios P.^{j_cclm-2024-1013_aff_003}

Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13

Sobol, Maria, Aravidis, Christos, Hessel, Hugo, Lindqvist, Anna, Baranowska Korberg, Izabella

electronic

MicroRNA Expression Analysis: Next-Generation Sequencing

Liu, Poching^Aff4

Raghavachari, Nalini^Aff2, Garcia-Reyero, Natàlia^Aff3, Walker, John M.^Aff1

Genome-Wide Copy Number Alteration Detection in Preimplantation Genetic Diagnosis

Deleye, Lieselot^Aff5, De Coninck, Dieter^Aff5, Deforce, Dieter^Aff5, Van Nieuwerburgh, Filip^Aff5

Head, Steven R.^Aff2, Ordoukhanian, Phillip^Aff3, Salomon, Daniel R.^Aff4, Walker, John M.^Aff1

A TBC1D24 gene variant coincides with STRC compound heterozygosity in a family with hearing loss: a case report

Martin Schwarz, Kamila Hanková, Markéta Havlovicová, Radka Kremlíková Pourová, Jan Bouček

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Certainty in uncertainty: Determining the rate and reasons for reclassification of variants of uncertain significance in haematological malignancies

Anoop K. Enjeti, Natasha Walker, Oliver Fahey, Elizabeth Johnston, Hannah Legge‐Wilkinson, Nateika Ramsurrun, Jonathan Sillar, Lisa F. Lincz, Andrew Ziolkowski, David Mossman

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Quantitative Genome-Wide Measurements of Meiotic DNA Double-Strand Breaks and Protein Binding in S. pombe

Hyppa, Randy W.^Aff3, Fowler, Kyle R.^{Aff3, Aff4}, Smith, Gerald R.^Aff3

Stuart, David T.^Aff2, Walker, John M.^Aff1

Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn’s disease

Schwarz, Martin^{Aff1, Aff2, IDs11033024093178_cor1}, Gazdarica, Matej^Aff3, Froňková, Eva, Svatoň, Michael, Bronský, Jiří, Havlovicová, Markéta, Křepelová, Anna, Macek jr, Milan

Multiplexing and massive parallel sequencing of targeted DNA methylation to predict chronological age

Bowen Zhu, Dean Li, Guojing Han, Xue Yao, Hongqin Gu, Tao Liu, Linghua Liu, Jie Dai, Isabella Zhaotong Liu, Yanlin Liang, Jian Zheng, Zheming Sun, He Lin, Nan Liu, Haidong Yu, Meifang Shi, Gaofang Shen, Zhaohui Hu, Lefeng Qu

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NGS-QC Generator: A Quality Control System for ChIP-Seq and Related Deep Sequencing-Generated Datasets

Mendoza-Parra, Marco Antonio^Aff4, Saleem, Mohamed-Ashick M.^Aff4, Blum, Matthias^Aff4, Cholley, Pierre-Etienne^Aff4, Gronemeyer, Hinrich^Aff4

Mathé, Ewy^Aff2, Davis, Sean^Aff3, Walker, John M.^Aff1

Past, Present and Future Perspectives of Forensic Genetics

Itzae Adonai Gutiérrez-Hurtado, Mayra Elizabeth García-Acéves, Yolanda Puga-Carrillo, Mariano Guardado-Estrada, Denisse Stephania Becerra-Loaiza, Víctor Daniel Carrillo-Rodríguez, Reynaldo Plazola-Zamora, Juliana Marisol Godínez-Rubí, Héctor Rangel-Villalobos, José Alonso Aguilar-Velázquez

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Gene Calling and Bacterial Genome Annotation with BG7

Tobes, Raquel^Aff5, Pareja-Tobes, Pablo^Aff5, Manrique, Marina^Aff5, Pareja-Tobes, Eduardo^Aff5, Kovach, Evdokim^Aff5, Alekhin, Alexey^Aff5, Pareja, Eduardo^Aff5

Mengoni, Alessio^Aff2, Galardini, Marco^Aff3, Fondi, Marco^Aff4, Walker, John M.^Aff1

Spitting in the wind?—The challenges of RNA sequencing for biomarker discovery from saliva

Gosch, Annica, Banemann, Regine, Dørum, Guro, Haas, Cordula, Hadrys, Thorsten, Haenggi, Nadescha, Kulstein, Galina, Neubauer, Jacqueline, Courts, Cornelius^{Aff1, IDs00414023031003_cor9}

Using Native Chromatin Immunoprecipitation to Interrogate Histone Variant Protein Deposition in Embryonic Stem Cells

Tseng, Zito^Aff3, Wu, Tao^Aff3, Liu, Yifei^Aff3, Zhong, Mei^Aff4, Xiao, Andrew^Aff3

Wajapeyee, Narendra^Aff2, Walker, John M.^Aff1

Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges

Dirk Prawitt, Thomas Eggermann

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Improving kinship probability in analysis of ancient skeletons using identity SNPs and MPS technology

Zupanič Pajnič, Irena^{Aff1, IDs00414023030033_cor1}, Leskovar, Tamara, Črešnar, Matija

The Interpretation of Mixed DNA Samples : Historical Perspective and Current Developments

Sessa, Francesco^Aff4, Salerno, Monica^Aff5, Pomara, Cristoforo^Aff5

Dash, Hirak Ranjan, editor^Aff1, Shrivastava, Pankaj, editor^Aff2, Lorente, J. A., editor^Aff3

Molecular Techniques in Microbial Forensics

Kapoor, Neeti^Aff4, Sulke, Pradnya^Aff5, Badiye, Ashish^Aff4

Dash, Hirak Ranjan, editor^Aff1, Shrivastava, Pankaj, editor^Aff2, Lorente, J. A., editor^Aff3