Results 1 to 10 of about 1,556,351 (302)

A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17 [PDF]

, 2015
Closed breeding populations in the dog in conjunction with advances in gene mapping and sequencing techniques facilitate mapping of autosomal recessive diseases and identification of novel disease-causing variants, often using unorthodox experimental ...
A McKenna, András M. Komáromy, Cathryn Mellersh, D Gilliam, D Gould, D Hubmacher, Degui Zhi, FH Farias, G Lim, H Li, HG Parker, HM Kang, J Guo, J Guo, J Kuchtey, J Kuchtey, J Morales, JT Robinson, L Mosyak, Louise Pettitt, N Safra, N Siva, Oliver P. Forman, P Danecek, Peter Bedford, S Porter, S Purcell, SJ Ahonen   +27 more
core   +34 more sources

Whole-genome sequencing [PDF]

Practical Neurology, 2021
The costs of whole-genome sequencing have rapidly decreased, and it is being increasingly deployed in large-scale clinical research projects and introduced into routine clinical care. This will lead to rapid diagnoses for patients with genetic disease but also introduces uncertainty because of the diversity of human genomes and the potential ...
Huw R Morris, Henry Houlden, James Polke
openaire   +3 more sources

Truvari: refined structural variant comparison preserves allelic diversity

Genome Biology, 2022
The fundamental challenge of multi-sample structural variant (SV) analysis such as merging and benchmarking is identifying when two SVs are the same.
Adam C. English, Vipin K. Menon, Richard A. Gibbs, Ginger A. Metcalf, Fritz J. Sedlazeck   +4 more
doaj   +1 more source

PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation

Genome Biology, 2021
Long-read sequencing has been shown to have advantages in structural variation (SV) detection and methylation calling. Many studies focus either on SV, methylation, or phasing of SNV; however, only the combination of variants provides a comprehensive ...
Medhat Mahmoud, Harshavardhan Doddapaneni, Winston Timp, Fritz J. Sedlazeck   +3 more
doaj   +1 more source

Single-cell multiomics of the human retina reveals hierarchical transcription factor collaboration in mediating cell type-specific effects of genetic variants on gene regulation

Genome Biology, 2023
Background Systematic characterization of how  genetic variation modulates gene regulation in a cell type-specific context is essential for understanding complex traits.
Jun Wang, Xuesen Cheng, Qingnan Liang, Leah A. Owen, Jiaxiong Lu, Yiqiao Zheng, Meng Wang, Shiming Chen, Margaret M. DeAngelis, Yumei Li, Rui Chen   +10 more
doaj   +1 more source

Unusual sequence characteristics of human chromosome 19 are conserved across 11 nonhuman primates

BMC Evolutionary Biology, 2020
Background Human chromosome 19 has many unique characteristics including gene density more than double the genome-wide average and 20 large tandemly clustered gene families.
R. Alan Harris, Muthuswamy Raveendran, Kim C. Worley, Jeffrey Rogers   +3 more
doaj   +1 more source

Genomic variant benchmark: if you cannot measure it, you cannot improve it

Genome Biology, 2023
Genomic benchmark datasets are essential to driving the field of genomics and bioinformatics. They provide a snapshot of the performances of sequencing technologies and analytical methods and highlight future challenges.
Sina Majidian, Daniel Paiva Agustinho, Chen-Shan Chin, Fritz J. Sedlazeck, Medhat Mahmoud   +4 more
doaj   +1 more source

SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads

BMC Genomics, 2017
Background Characterization of genomic structural variation (SV) is essential to expanding the research and clinical applications of genome sequencing.
Oliver A. Hampton, Adam C. English, Mark Wang, William J. Salerno, Yue Liu, Donna M. Muzny, Yi Han, David A. Wheeler, Kim C. Worley, James R. Lupski, Richard A. Gibbs   +10 more
doaj   +1 more source

Single-molecule real-time sequencing combined with optical mapping yields completely finished fungal genome [PDF]

, 2015
Next-generation sequencing (NGS) technologies have increased the scalability, speed, and resolution of genomic sequencing and, thus, have revolutionized genomic studies.
Datema, Erwin, Faino, Luigi, Janssen, Antoine, Seidl, Michael F., Thomma, Bart P. H. J., Van Den Berg, Grardy C. M., Wittenberg, Alexander H. J.   +6 more
core   +2 more sources

Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

Molecular Genetics & Genomic Medicine, 2020
Background Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services ...
Aniko Sabo, David Murdock, Shannon Dugan, Qingchang Meng, Marie‐Claude Gingras, Jianhong Hu, Donna Muzny, Richard Gibbs   +7 more
doaj   +1 more source