Heather M. McLaughlin

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: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases and reveals a general convergence of practices on most elements of the analysis and interpretation process.

TL;DR: 6 different mutations in coenzyme Q10 biosynthesis monooxygenase 6 (COQ6) in 13 individuals from 7 families were identified and each mutation was linked to early-onset SRNS with sensorineural deafness, suggesting that coen enzyme Q10-related forms of SRNS and hearing loss can be molecularly identified and potentially treated.

TL;DR: Clinical HCM genetic testing provides a definitive molecular diagnosis for many patients and provides cost savings to families, and an expanded gene panel encompassing more than 50 genes identified only a very small number of additional pathogenic variants beyond those identifiable in the original panels.

TL;DR: This work identifies loss of SDCCAG8 function as a cause of a retinal-renal ciliopathy and validates exome capture analysis for broadly heterogeneous single-gene disorders.