Results 21 to 30 of about 125,953 (296)
A comparative analysis of exome capture [PDF]
Genome Biology, 2011 Abstract Background Human exome resequencing using commercial target capture kits has been and is being used for sequencing large numbers of individuals to search for variants associated with various human diseases. We rigorously evaluated the capabilities of two solution exome capture kits.
Parla, J. S. +5 more
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Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021 Background Pediatric cardiomyopathy is a genetically heterogeneous disease with substantial morbidity and mortality. Current guidelines recommend genetic testing in children with hypertrophic, dilated, or restrictive cardiomyopathy, but practice ...
Stephanie M. Ware +30 more
doaj +1 more source
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 +2 more
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Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease
Annals of Indian Academy of Neurology, 2014 Over 70 different Charcot-Marie-Tooth disease (CMT)–associated genes have now been discovered and their number is growing. Conventional genetic testing for all CMT genes is cumbersome, expensive, and impractical in an individual patient.
Ashok Verma
doaj +1 more source
Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report
Medicina, 2020 The DHRS9 gene is involved in several pathways including the synthesis of allopregnanolone from progesterone. Allopregnanolone is a positive modulator of gamma aminobutyric acid (GABA) action and plays a role in the control of neuronal excitability and ...
Francesco Calì +8 more
doaj +1 more source
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 +6 more
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A genome wide association study for lung function in the Korean population using an exome array [PDF]
The Korean Journal of Internal Medicine, 2021 Background/Aims Lung function is an objective indicator of diagnosis and prognosis of respiratory diseases. Many common genetic variants have been associated with lung function in multiple ethnic populations. We looked for coding variants associated with
Kyu-Sun Lee +4 more
doaj +1 more source
Frontiers in Plant Science, 2022 Induced mutagenesis is a powerful approach for the creation of novel germplasm and the improvement of agronomic traits. The evaluation of mutagenic effects and functional variations in crops is needed for breeding mutant strains.
Yuting Li +12 more
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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 ...
Georgia Chenevix-Trench +3 more
openaire +3 more sources
Next generation sequencing in sudden cardiac death (pilot study)
Российский кардиологический журнал, 2020 Aim. To search for causal mutations in candidate genes responsible for the development of sudden cardiac death (SCD) in men who died under the age of 45.Material and methods.
V. N. Maksimov +9 more
doaj +1 more source