kConFab Investigators

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

The paper uses case-control data from over 400,000 women to classify BRCA1 and BRCA2 variants, finding high consistency with ClinVar annotations for 785 previously unclassified variants.

Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk

This study identifies seven novel genetic loci associated with high-grade serous ovarian cancer risk using a large-scale GWAS and develops polygenic scores for improved risk prediction.

Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction

This study examines differences in polygenic risk score distributions across European populations and shows how country-specific calibration can improve breast cancer risk prediction.

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

The paper assesses breast cancer risks linked to rare missense variants in five susceptibility genes using logistic and mixture models, finding varying risk contributions across genes.

MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

The paper introduces MRSD, a metric to determine optimal RNA-seq depth and tissue for assessing splicing variants in Mendelian diseases, showing LCLs are best for most gene panels.

Rare copy number variants (CNVs) and breast cancer risk

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

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

This study fine-maps 150 breast cancer risk regions to identify 178 high confidence target genes using genomic and functional annotations.

Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events

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