Results 11 to 20 of about 207,257 (328)

Whole exome sequencing in the rat [PDF]

BMC Genomics, 2018
Background The rat genome was sequenced in 2004 with the aim to improve human health altered by disease and environmental influences through gene discovery and animal model validation.
Julie F. Foley, Dhiral P. Phadke, Owen Hardy, Sara Hardy, Victor Miller, Anup Madan, Kellie Howard, Kimberly Kruse, Cara Lord, Sreenivasa Ramaiahgari, Gregory G. Solomon, Ruchir R. Shah, Arun R. Pandiri, Ronald A. Herbert, Robert C. Sills, B. Alex Merrick   +15 more
doaj   +4 more sources

Whole Exome Sequencing in Atrial Fibrillation.

PLoS Genetics, 2016
Atrial fibrillation (AF) is a morbid and heritable arrhythmia. Over 35 genes have been reported to underlie AF, most of which were described in small candidate gene association studies. Replication remains lacking for most, and therefore the contribution
Steven A Lubitz, Jennifer A Brody, Nathan A Bihlmeyer, Carolina Roselli, Lu-Chen Weng, Ingrid E Christophersen, Alvaro Alonso, Eric Boerwinkle, Richard A Gibbs, Joshua C Bis, NHLBI GO Exome Sequencing Project, L Adrienne Cupples, Peter J Mohler, Deborah A Nickerson, Donna Muzny, Marco V Perez, Bruce M Psaty, Elsayed Z Soliman, Nona Sotoodehnia, Kathryn L Lunetta, Emelia J Benjamin, Susan R Heckbert, Dan E Arking, Patrick T Ellinor, Honghuang Lin   +24 more
doaj   +5 more sources

Exome sequencing: a transformative technology [PDF]

The Lancet Neurology, 2011
Much basic research into disease mechanisms has made use of genetic findings to model and understand aetiology. Broad success has been achieved in finding disease-linked mutations with traditional positional cloning approaches; however, because of the requirements of this method, these successes have been limited by the availability of large, well ...
Andrew Singleton
openalex   +4 more sources

Searching for BRCA3 by exome sequencing [PDF]

Hereditary Cancer in Clinical Practice, 2012
The current paradigm suggests that some non-BRCA1/2 multiple case breast cancer families are caused by rare mutations in high-risk genes. We are using exome sequencing to identify putative ‘BRCA3’ genes in a small number of kConFab families. We selected five non-BRCA1/2 families containing 5-9 breast cancer cases (of which 0-4 per family were affected ...
Makunin I, Stark M, Gartside M, Chenevix-Trench G   +3 more
doaj   +3 more sources

Exome Sequencing in Children [PDF]

Deutsches Ärzteblatt international, 2019
In developed countries, global developmental disorders are encounter- ed in approximately 1% of all children. The causes are manifold, and no exogenous cause can be identified in about half of the affected children. The parallel investi- gation of the coding sequences of all genes of the affected individual (whole exome sequencing, WES) has developed ...
Elisa A Mahler, Konstantinos Tsiakas, Chris Mühlhausen, Katja Kloth, Davor Lessel, Tim M. Strom, Bader Alhaddad, Sabine Lüttgen, Maja Hempel, Ania C. Muntau, René Santer, Tobias B. Haack, Jonas Denecke, Thomas Meitinger, Jessika Johannsen, Christian Kubisch, Fanny Kortüm   +16 more
openaire   +3 more sources

Exome Sequencing Deciphers Rare Diseases [PDF]

Cell, 2011
Two years ago, NIH's Undiagnosed Diseases Program began delivering genomics to the clinic on an unprecedented scale. Now, with 128 exomes sequenced and 39 rare diseases diagnosed, the program's success is paving the way for widespread personal genomics while pioneering new techniques for reigning in the "tsunami" of genomics data.
Amy Maxmen
openalex   +4 more sources

The GENCODE exome: sequencing the complete human exome [PDF]

European Journal of Human Genetics, 2011
Sequencing the coding regions, the exome, of the human genome is one of the major current strategies to identify low frequency and rare variants associated with human disease traits. So far, the most widely used commercial exome capture reagents have mainly targeted the consensus coding sequence (CCDS) database.
Emily M LeProust, Aarno Palotie, Felix Kokocinski, Priit Palta, Priit Palta, Priit Palta, Daniel J. Turner, Eleanor Drury, Carol Scott, Christopher J. Joyce, Jen Harrow, Maria S Calafato, Tim Hubbard, Sarah E. Hunt, Alison J. Coffey, Anna-Elina Lehesjoki   +15 more
openaire   +4 more sources

The Rise and Rise of Exome Sequencing [PDF]

Public Health Genomics, 2016
Beginning in 2009, the advent of exome sequencing has contributed significantly towards new discoveries of heritable germline mutations and de novo mutations for rare Mendelian disorders with hitherto unknown genetic aetiologies. Exome sequencing is an efficient tool to identify disease mutations without the need of a multi-generational pedigree ...
George P. Patrinos, Chee-Seng Ku, David Neil Cooper   +2 more
openaire   +4 more sources

Performance of Exome Sequencing for Pharmacogenomics [PDF]

Personalized Medicine, 2015
We present the potential false-negative rate of exome sequencing for the detection of pharmacogenomic variants.Depth of coverage of 1928 pharmacogenomically relevant variant positions was ascertained from 62 exome-sequenced samples.Approximately 14% of the 1928 variant locations examined had inadequate depth of coverage (
Peter Clark, Marialuisa Sponziello, Eric Londin, Jason Y. Park, Paolo Fortina, Paolo Fortina, Larry J. Kricka   +6 more
openaire   +4 more sources

Clinical exome sequencing—Mistakes and caveats [PDF]

Human Mutation, 2022
Massive parallel sequencing technology has become the predominant technique for genetic diagnostics and research. Many genetic laboratories have wrestled with the challenges of setting up genetic testing workflows based on a completely new technology.
Corominas, J., Smeekens, S.P., Smeekens, S.P., Nelen, M.R., Yntema, H.G., Kamsteeg, E.J., Pfundt, R.P., Gilissen, C.F.H.A.   +7 more
openaire   +2 more sources