Álvaro N.A. Monteiro

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

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

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

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

Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants

The paper functionally characterizes BRCA2 variants using saturation genome editing and classifies them clinically, finding functionally abnormal variants are associated with increased cancer risk.

Combining genome-wide studies of breast, prostate, ovarian and endometrial cancers maps cross-cancer susceptibility loci and identifies new genetic associations

This study combines genome-wide association data from four cancers to identify shared and novel genetic associations and pleiotropic effects.

epiTAD: a web application for visualizing high throughput chromosome conformation capture data in the context of genetic epidemiology

epiTAD is a web tool for visualizing chromosome conformation capture data across multiple databases to support integrative genome-wide exploration.