Logan C. Walker

The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.

The paper specifies gene-specific rules for interpreting ATM variants using ACMG/AMP guidelines, improving classification accuracy in a pilot study.

The paper refines ACMG/AMP splicing variant classification codes using empirical evidence to improve consistency in variant pathogenicity classification.

The paper analyzes rare copy number variants (CNVs) in breast cancer cases and controls, identifying associations with known and novel susceptibility loci.

CamCNV improves detection of rare CNVs from Illumina arrays by using z-score segmentation, achieving 85% sensitivity for deletions and 65% for duplications with reliable false discovery rate control.

The paper uses nanopore sequencing to analyze full-length BRCA1 mRNA transcripts, identifying novel isoforms and co-occurring exon skipping events.