Results 1 to 10 of about 118,032 (145)
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
doaj +3 more sources
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
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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
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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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 +1 more source
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
openaire +3 more sources
Frontiers in Genetics, 2020 Background: Both whole exome sequencing and copy number variants sequencing were applied to identify the genetic cause of rare pediatric disorders.
Xuyun Hu +17 more
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Evaluating the coverage and potential of imputing the exome microarray with next-generation imputation using the 1000 Genomes Project. [PDF]
PLoS ONE, 2014 Next-generation genotyping microarrays have been designed with insights from large-scale sequencing of exomes and whole genomes. The exome genotyping arrays promise to query the functional regions of the human genome at a fraction of the sequencing cost,
Erwin Tantoso +7 more
doaj +1 more source
The Application of Whole−Exome Sequencing in Patients With FUO
Frontiers in Cellular and Infection Microbiology, 2022 BackgroundFever of unknown origin (FUO) is still a challenge for clinicians. Next-generation sequencing technologies, such as whole exome sequencing (WES), can be used to identify genetic defects in patients and assist in diagnosis.
Wanru Guo +9 more
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