Results 11 to 20 of about 823,839 (283)
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.
Coffey, Alison J +13 more
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Exome sequencing and genetic testing for MODY. [PDF]
PLoS ONE, 2012 Genetic testing for monogenic diabetes is important for patient care. Given the extensive genetic and clinical heterogeneity of diabetes, exome sequencing might provide additional diagnostic potential when standard Sanger sequencing-based diagnostics is ...
Stefan Johansson +12 more
doaj +6 more sources
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing [PDF]
Human Genomics, 2023 Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single ...
Burcu Yaldiz +11 more
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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 +15 more
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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 ...
Ku, Chee-Seng +2 more
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Exome Sequencing: Current and Future Perspectives [PDF]
G3 Genes|Genomes|Genetics, 2015 The falling cost of DNA sequencing has made the technology af fordable to many research groups, enabling researchers to link genomic variants to observed phenotypes in a range of species. This review focusses on whole exome sequencing and its applications in humans and other species.
Warr, Amanda +5 more
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Trio Exome Sequencing in VACTERL Association
Kidney International ReportsIntroduction: Currently, there is only limited data on monogenic causes of vertebral defects, anorectal malformations, cardiac defects, esophageal atresia or tracheoesophageal fistula, renal malformations, and limb defects (VACTERL) association.
Jasmina Ćomić +29 more
doaj +5 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 +16 more
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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 (
Londin, Eric R +5 more
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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. +7 more
openaire +2 more sources