AVIA 3.0: interactive portal for genomic variant and sample level analysis
Sign Up to like & getrecommendations! Published in 2021 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btaa994
Abstract: MOTIVATION The Annotation, Visualization and Impact Analysis (AVIA) is a web application combining multiple features to annotate and visualize genomic variant data. Users can investigate functional significance of their genetic alterations across samples, genes, and… read more here.
Keywords: variant sample; analysis; sample level; genomic variant ... See more keywords
Is there a duty to routinely reinterpret genomic variant classifications?
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Medical Ethics"
DOI: 10.1136/jme-2022-108864
Abstract: Multiple studies show that periodic reanalysis of genomic test results held by clinical laboratories delivers significant increases in overall diagnostic yield. However, while there is a widespread consensus that implementing routine reanalysis procedures is highly… read more here.
Keywords: routinely reinterpret; reanalysis; variant classifications; genomic variant ... See more keywords
Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells
Sign Up to like & getrecommendations! Published in 2018 at "Circulation"
DOI: 10.1161/circulationaha.117.032273
Abstract: Background: The progression toward low-cost and rapid next-generation sequencing has uncovered a multitude of variants of uncertain significance (VUS) in both patients and asymptomatic “healthy” individuals. A VUS is a rare or novel variant for… read more here.
Keywords: vusmyl3 170c; uncertain significance; pathogenicity; genomic variant ... See more keywords
Genomic variant sharing: a position statement.
Sign Up to like & getrecommendations! Published in 2019 at "Wellcome open research"
DOI: 10.12688/wellcomeopenres.15090.1
Abstract: Sharing de-identified genetic variant data is essential for the practice of genomic medicine and is demonstrably beneficial to patients. Robust genetic diagnoses that inform medical management cannot be made accurately without reference to genetic test… read more here.
Keywords: medicine; information; genetic variants; variant sharing ... See more keywords
Designing an Optimal Expansion Method to Improve the Recall of a Genomic Variant Curation-Support Service
Sign Up to like & getrecommendations! Published in 2022 at "Studies in health technology and informatics"
DOI: 10.3233/shti220603
Abstract: The importance of genomic data for health is rapidly growing but accessing and gathering information about variants from different sources is hindered by highly heterogeneous representations of variants, as outlined by clinical associations (AMP/ASCO/CAP) in… read more here.
Keywords: curation support; variant curation; support service; genomic variant ... See more keywords