Results 21 to 30 of about 128,279 (119)

Genotype–Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre

Acta Dermato-Venereologica, 2018
Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing as a rapid and efficient diagnostic strategy in several genodermatoses.
Vamsi K. Yenamandra, Shamsudheen K. Vellarikkal, Madhumita R. Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata Basu Ray, Amit K. Dinda, Madhulika Kabra, Vinod K. Sharma, Gomathy Sethuraman   +11 more
doaj   +1 more source

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Nature Communications, 2023
The short lengths of short-read sequencing reads challenge the analysis of paralogous genomic regions in exome and genome sequencing data. Most genetic variants within these homologous regions therefore remain unidentified in standard analyses.
Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Juliet Hampstead, Elke de Boer, Alexander Stegmann, Helger Yntema, Erik-Jan Kamsteeg, Han Brunner, Alexander Hoischen, Christian Gilissen   +12 more
doaj   +1 more source

PHARMACOGENETIC TESTING OPPORTUNITIES IN CARDIOLOGY BASED ON EXOME SEQUENCING

Рациональная фармакотерапия в кардиологии, 2015
Aim. To study what cardiac drugs currently have any comments on biomarkers and what information can be obtained by pharmacogenetic testing using data exome sequencing in patients with cardiac diseases.Material and methods.
N. V. Shcherbakova, A. I. Ershova, A. A. Suvorova, E. Y. Hlebus, A. N. Meshkov, S. A. Boytsov   +5 more
doaj   +3 more sources

Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication

Annals of the Child Neurology Society
Objective Our aim was to investigate the advantages of exome sequencing versus panel testing for patients with unexplained seizures. Methods We reviewed the diagnostic outcomes of exome sequencing by a commercial genetics laboratory for more than 16 000 ...
Michelle M. Morrow, Elizabeth Butler, Melanie P. Napier, Lindsay Havens‐Dyer, Annabelle Tuttle, Patricia C. Lopes, Britt A. Johnson, Paul Kruszka, Kirsty McWalter   +8 more
doaj   +1 more source

Whole exome sequencing in the rat

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
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Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants [PDF]

Genomics & Informatics, 2015
Sequencing depth, which is directly related to the cost and time required for the generation, processing, and maintenance of next-generation sequencing data, is an important factor in the practical utilization of such data in clinical fields ...
Kyung Kim, Moon-Woo Seong, Won-Hyong Chung, Sung Sup Park, Sangseob Leem, Won Park, Jihyun Kim, KiYoung Lee, Rae Woong Park, Namshin Kim   +9 more
doaj   +1 more source

Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]

Diabetes & Metabolism Journal, 2015
BackgroundAlström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.
Min Kyeong Kim, Soo Heon Kwak, Shinae Kang, Hye Seung Jung, Young Min Cho, Seong Yeon Kim, Kyong Soo Park   +6 more
doaj   +1 more source

Performance comparison of Agilent new SureSelect All Exon v8 probes with v7 probes for exome sequencing

BMC Genomics, 2022
Exome sequencing is becoming a routine in health care, because it increases the chance of pinpointing the genetic cause of an individual patient's condition and thus making an accurate diagnosis.
Vera Belova, Anna Shmitko, Anna Pavlova, Robert Afasizhev, Valery Cheranev, Anastasia Tabanakova, Natalya Ponikarovskaya, Denis Rebrikov, Dmitriy Korostin   +8 more
doaj   +1 more source

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   +1 more source

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