Rajarshi Ghosh

TL;DR: Although an initial pilot of the ACMG-AMP guidelines did not lead to increased concordance in variant interpretation, comparing variant interpretations to identify differences and having a common framework to facilitate resolution of those differences were beneficial for improving agreement, allowing iterative movement toward increased reporting consistency for variants in genes associated with monogenic disease.

TL;DR: Characterization of C. elegans genetic variation using high-throughput selective sequencing of a worldwide collection of 200 wild strains and identified 41,188 SNPs showed that this pattern was generated by chromosome-scale selective sweeps that have reduced variation worldwide.

TL;DR: An evidence-based, systematic method to assess the strength of gene-disease relationships will facilitate more knowledgeable utilization of genomic variants in clinical and research settings.

TL;DR: A quantitative behavioral assay is used to show that C. elegans male mate searching is regulated by signals from hermaphrodites and by physiological signals indicating nutritional and reproductive status, and identifies genes in the serotonin, insulin, and sex determination pathways that affect the rate of mate searching.

TL;DR: The ClinGen framework is useful to semiquantitatively assess the strength of gene-disease relationships for HTAAD and may inform clinical laboratories in the development, interpretation, and subsequent clinical implications of genetic testing for patients with aortic disease.