Results 21 to 30 of about 157,645 (329)

Evaluating the coverage and potential of imputing the exome microarray with next-generation imputation using the 1000 Genomes Project. [PDF]

PLoS ONE, 2014
Next-generation genotyping microarrays have been designed with insights from large-scale sequencing of exomes and whole genomes. The exome genotyping arrays promise to query the functional regions of the human genome at a fraction of the sequencing cost,
Erwin Tantoso, Lai-Ping Wong, Bowen Li, Woei-Yuh Saw, Wenting Xu, Peter Little, Rick Twee-Hee Ong, Yik-Ying Teo   +7 more
doaj   +1 more source

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants [PDF]

Proceedings of the National Academy of Sciences, 2014
AbstractWe compared whole-exome sequencing (WES) and whole-genome sequencing (WGS) in six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus coding genome), the mean numbers of single-nucleotide variants (SNVs) and small insertions/deletions (indels) detected per sample were 84,192 and 13,325, respectively, for WES ...
Laurent Abel, Laurent Abel, Laurent Abel, Lei Shang, Alexandre Bolze, Aziz Belkadi, Alexander Antipenko, Bertrand Boisson, Aurélie Cobat, Aurélie Cobat, Yuval Itan, Quentin B. Vincent, Quentin B. Vincent, Jean-Laurent Casanova   +13 more
openaire   +3 more sources

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Nature Communications, 2020
With the generation of large pan-cancer whole-exome and whole-genome sequencing projects, a question remains about how comparable these datasets are. Here, using The Cancer Genome Atlas samples analysed as part of the Pan-Cancer Analysis of Whole Genomes
Matthew H. Bailey, William U. Meyerson, Lewis Jonathan Dursi, Liang-Bo Wang, Guanlan Dong, Wen-Wei Liang, Amila Weerasinghe, Shantao Li, Yize Li, Sean Kelso, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, Gordon Saksena, Kyle Ellrott, Michael C. Wendl, David A. Wheeler, Gad Getz, Jared T. Simpson, Mark B. Gerstein, Li Ding, PCAWG Consortium   +20 more
doaj   +1 more source

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease [PDF]

, 2017
Context.-With the decrease in the cost of sequencing, the clinical testing paradigm has shifted from single gene to gene panel and now whole-exome and whole-genome sequencing.
Ferreira-Gonzalez, Andrea, Hegde, Madhuri, Mao, Rong, Santani, Avni, Voelkerding, Karl V., Weck, Karen E.   +5 more
core   +3 more sources

Whole Exome Sequencing

Rinsho Shinkeigaku, 2010
Over the years there have been many different approaches and techniques that have been utilized to gather genetic information on family and patient data. Early on these focused on using family information and the pattern of inheritance of the disease in the family.
Jeffery M. Vance, Karen Nuytemans
openaire   +4 more sources

Development and performance of a targeted whole exome sequencing enrichment kit for the dog (Canis Familiaris Build 3.1) [PDF]

, 2014
Whole exome sequencing is a technique that aims to selectively sequence all exons of protein-coding genes. A canine whole exome sequencing enrichment kit was designed based on the latest canine reference genome (build 3.1.72).
Bavegems, Valérie, Broeckx, Bart, Coopman, Frank, De Keulenaer, Sarah, De Meester, Ellen, Deforce, Dieter, Van Nieuwerburgh, Filip, Verhoeven, Geert   +7 more
core   +2 more sources

An heuristic filtering tool to identify phenotype-associated genetic variants applied to human intellectual disability and canine coat colors [PDF]

, 2015
Background: Identification of one or several disease causing variant(s) from the large collection of variants present in an individual is often achieved by the sequential use of heuristic filters.
Bosmans, Tim, Broeckx, Bart, Coopman, Frank, Deforce, Dieter, Dingemanse, Walter, Gielen, Ingrid, Saunders, Jimmy, Van Nieuwerburgh, Filip, Verhoeven, Geert   +8 more
core   +5 more sources

Whole‐exome sequencing for variant discovery in blepharospasm [PDF]

Molecular Genetics & Genomic Medicine, 2018
AbstractBackgroundBlepharospasm (BSP) is a type of focal dystonia characterized by involuntary orbicularis oculi spasms that are usually bilateral, synchronous, and symmetrical. Despite strong evidence for genetic contributions to BSP, progress in the field has been constrained by small cohorts, incomplete penetrance, and late age of onset.
Zbigniew K. Wszolek, Monika Rudzińska-Bar, Satya R. Vemula, Elizabeth J. Trimble, Jay A. van Gerpen, Peter Hedera, Jianfeng Xiao, Angelo Fabio Gigante, Simona Petrucci, Giovanni Defazio, Giovanni Defazio, Enza Maria Valente, Kathleen D. Kennelly, Mark S. LeDoux, Jun Tian, Jun Tian, Ryan J. Uitti   +16 more
openaire   +5 more sources

Impact of Concurrency on the Performance of a Whole Exome Sequencing Pipeline [PDF]

BMC Bioinformatics, 2020
Abstract Background: Current high-throughput technologies - i.e. Whole Genome Sequencing (WGS), RNA-Seq, ChIP-Seq, etc. - generate huge amounts of data and their usage gets more widespread with each passing year. Complex analysis pipelines involving several computationally-intensive steps have to be applied on an increasing number of samples ...
Dall’Olio, Daniele, Curti, Nico, Fonzi, Eugenio, Sala, Claudia, Remondini, Daniel, Castellani, Gastone, Giampieri, Enrico   +6 more
openaire   +5 more sources

Diagnostic utility of exome sequencing for inherited peripheral neuropathies

Нервно-мышечные болезни, 2020
Introduction. Hereditary motor and sensory neuropathies, a highly genetic heterogeneous group of disorders, have a phenotype caused by peripheral nerve damage.Purpose of the study – to assess the extent of genetic heterogeneity of hereditary motor and ...
O. A. Shchagina, O. P. Ryzhkova, A. L. Chukhrova, T. V. Milovidova, P. Gundorova, O. L. Mironovich, A. A. Orlova, M. D. Orlova, A. V. Poliakov   +8 more
doaj   +1 more source