Sentences with phrase «missense variants»
"Missense variants" refers to changes or errors in our genetic material (DNA) that result in a single alteration in the building blocks (nucleotides) of a specific gene. This alteration causes the gene to produce a different, usually incorrect, protein. The term "missense" implies that the alteration leads to a change in the protein's structure or function, which may have various implications for our health or traits. Full definition
Whole - exome sequencing of 238 African American subjects identified 6 rare missense variants within the EOAD genes, which were observed in AD cases but never among controls.
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De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
Saturday, Oct. 21, 9:45 - 10:45 a.m., Room 220F, South Building Platform Session: Improved Interpretation of Missense Variants Moderators: James Ware, Imperial College London; and Kaitlin Samocha, Wellcome Trust Sanger Institute
They took the 10 T2D GWAS loci with the strongest support in their study, and looked for low - frequency missense variants within 2.5 million base pairs of the common index SNV.
We performed exome sequencing in 13 parent - offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five rare missense variants (two of which arose de novo) in the highly conserved gene NR2F2.
A Missense Variant in PLEC Increases Risk of Atrial Fibrillation.
The framework is applied to four human proteins corresponding to six human genes and generates comprehensive functional variation maps covering > 13,000 missense variants.