Results 31 to 40 of about 207,257 (328)

Exome sequencing in Parkinson's disease [PDF]

Clinical Genetics, 2011
Bras JM, Singleton AB. Exome sequencing in Parkinson's disease.Exome sequencing is rapidly becoming a fundamental tool for genetics and functional genomics laboratories. This methodology has enabled the discovery of novel pathogenic mutations causing mendelian diseases that had, until now, remained elusive.
Andrew B. Singleton, Jose Bras
openaire   +3 more sources

Diagnostic value of partial exome sequencing in developmental disorders. [PDF]

PLoS ONE, 2018
Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a partial
Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump   +19 more
doaj   +1 more source

Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. [PDF]

, 2013
We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in ATM with somatic loss of the variant allele. Another proband had a nonsense variant in PALB2 with somatic loss of the
Al-Sukhni, Wigdan, Borgida, Ayelet E, Gallinger, Steven, Grant, Robert C, Holter, Spring, Kanji, Zaheer S, McPherson, John D, McPherson, Treasa, Peltekova, Vanya, Serra, Stefano, Stein, Lincoln D, Trinh, Quang M, Whelan, Emily   +12 more
core   +3 more sources

Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing

BMC Genomics, 2012
Background Protein-coding regions in human genes harbor 85% of the mutations that are associated with disease-related traits. Compared with whole-genome sequencing of complex samples, exome sequencing serves as an alternative option because of its ...
Liu Qi, Shen Enjian, Min Qingjie, Li Xueying, Wang Xin, Li Xianfeng, Sun Zhong Sheng, Wu Jinyu   +7 more
doaj   +1 more source

Novel bioinformatic developments for exome sequencing [PDF]

Human Genetics, 2016
With the widespread adoption of next generation sequencing technologies by the genetics community and the rapid decrease in costs per base, exome sequencing has become a standard within the repertoire of genetic experiments for both research and diagnostics. Although bioinformatics now offers standard solutions for the analysis of exome sequencing data,
Stefan H. Lelieveld, Joris A. Veltman, Christian Gilissen   +2 more
openaire   +6 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

Detecting identity by descent and homozygosity mapping in whole-exome sequencing data. [PDF]

PLoS ONE, 2012
The detection of genetic segments of Identical by Descent (IBD) in Genome-Wide Association Studies has proven successful in pinpointing genetic relatedness between reportedly unrelated individuals and leveraging such regions to shortlist candidate genes.
Zhong Zhuang, Alexander Gusev, Judy Cho, Itsik Pe'er   +3 more
doaj   +1 more source

Novel genotyping algorithms for rare variants significantly improve the accuracy of Applied Biosystems™ Axiom™ array genotyping calls: Retrospective evaluation of UK Biobank array data.

PLoS ONE, 2022
The UK Biobank genotyped about 500k participants using Applied Biosystems Axiom microarrays. Participants were subsequently sequenced by the UK Biobank Exome Sequencing Consortium. Axiom genotyping was highly accurate in comparison to sequencing results,
Orna Mizrahi-Man, Marcos H Woehrmann, Teresa A Webster, Jeremy Gollub, Adrian Bivol, Sara M Keeble, Katherine H Aull, Anuradha Mittal, Alan H Roter, Brant A Wong, Jeanette P Schmidt   +10 more
doaj   +1 more source

A Pilot Study Comparing HPV-Positive and HPV-Negative Head and Neck Squamous Cell Carcinomas by Whole Exome Sequencing. [PDF]

, 2012
Background. Next-generation sequencing of cancers has identified important therapeutic targets and biomarkers. The goal of this pilot study was to compare the genetic changes in a human papillomavirus- (HPV-)positive and an HPV-negative head and neck ...
Barrett, John W, Basmaji, John, Boutros, Paul, Chan-Seng-Yue, Michelle, Dhaliwal, Sandeep, Dowthwaite, Samuel, Franklin, Jason H, Fung, Kevin, Koropatnick, James, Kwan, Keith, Lambin, Philippe, Mymryk, Joe S, Nichols, Anthony C, Palma, David A, Starmans, Maud HW, Szeto, Christopher CT, Todorovic, Biljana, Wehrli, Bret, Xu, Wei, Yoo, John   +19 more
core   +3 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