Results 21 to 30 of about 357,319 (349)
Whole-exome sequencing of oral epithelial dysplasia samples reveals an association with new genes [PDF]
Brazilian Oral Research, 2023 The genetic basis of oral epithelial (OED) is unknown, and there is no reliable method for evaluating the risk of malignant transformation. Somatic mutations are responsible for the transformation of dysplastic mucosa to invasive cancer.
Daniela ADORNO-FARIAS +6 more
doaj +1 more source
Ultrasound in Obstetrics and Gynecology, 2023 First, to determine the incremental yield of whole‐genome sequencing (WGS) over quantitative fluorescence polymerase chain reaction (QF‐PCR)/chromosomal microarray analysis (CMA) with and without exome sequencing (ES) in fetuses, neonates and infants ...
N. Shreeve +6 more
semanticscholar +1 more source
JMIR Bioinformatics and Biotechnology, 2021 Background Alagille syndrome is an autosomal dominant disorder associated with variable clinical phenotypic features including cholestasis, congenital heart defects, vertebral defects, and dysmorphic facies.
Deepak Panwar, Vandana Lal, Atul Thatai
semanticscholar +1 more source
A decade with whole exome sequencing in haematology [PDF]
British Journal of Haematology, 2019 SummaryThe first decade of capture‐based targeted whole exome sequencing (WES) has now passed, while the sequencing modality continues to find more widespread usage in clinical research laboratories and still offers an unprecedented diagnostic assay in terms of throughput, informational content and running costs.
Marcus C. Hansen +2 more
openaire +2 more sources
Whole-exome sequencing in a recombinant inbred line population of hexaploid wheat as a useful resource for allele mining [PDF]
, 2022 Sequence variants (SNPs) identified through whole exome sequencing in bread ...
salvatorre Esposito (11224014)
core +1 more source
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.
openaire +3 more sources
Quantifying single nucleotide variant detection sensitivity in exome sequencing [PDF]
, 2013 BACKGROUND: The targeted capture and sequencing of genomic regions has rapidlydemonstrated its utility in genetic studies. Inherent in this technology isconsiderable heterogeneity of target coverage and this is expected tosystematically impact our ...
Taylor, Martin S.; id_orcid +8 more
core +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 +20 more
doaj +1 more source
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
De novo mutations revealed by whole exome sequencing are strongly associated with autism
Nature, 2012 Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders. But whereas de novo single nucleotide variants have been identified in affected individuals, their contribution to risk has
Stephan J Sanders +29 more
semanticscholar +1 more source