Results 11 to 20 of about 122,559 (261)
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
doaj +5 more sources
Whole-exome sequencing study of hypospadias
iScience, 2023 Summary: Hypospadias results from the impaired urethral development, which is influenced by androgens, but its genetic etiology is still unknown. Through whole exome sequencing analysis, we identified NR5A1, SRD5A2, and AR as mutational hotspots in the ...
Zhongzhong Chen +7 more
doaj +4 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
openaire +2 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.
Coffey, Alison J +13 more
openaire +3 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 ...
Ku, Chee-Seng +2 more
openaire +3 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 (
Londin, Eric R +5 more
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Rinsho Shinkeigaku, 2010 Over the years there have been many different approaches and techniques that have been utilized to gather genetic information on family and patient data. Early on these focused on using family information and the pattern of inheritance of the disease in the family.
Nuytemans, Karen, Vance, Jeffery M.
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Exome sequencing in Parkinson's disease [PDF]
Clinical Genetics, 2011 Bras JM, Singleton AB. Exome sequencing in Parkinson's disease.Exome sequencing is rapidly becoming a fundamental tool for genetics and functional genomics laboratories. This methodology has enabled the discovery of novel pathogenic mutations causing mendelian diseases that had, until now, remained elusive.
Jose M, Bras, A B, Singleton
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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data
npj Genomic Medicine, 2022 Exome sequencing is utilized in routine clinical genetic diagnosis. The technical robustness of repurposing large-scale next-generation sequencing data for pharmacogenetics has been demonstrated, supporting the implementation of preemptive ...
Javier Lanillos +4 more
doaj +1 more source