Andrew Farrell

This study uses scRNA-seq and WGS to analyze HSCR patient tissues, identifying impaired neuronal differentiation in aganglionic colon segments.

This study identifies secondary splice-site mutations in BRCA1 that drive exon skipping and PARP inhibitor resistance in ovarian and breast cancer.

The paper uses deep whole genome sequencing to analyze genetic variants in CDH patients and their families, revealing heterogeneous and multifactorial genetic etiology.

The paper estimates human retrotransposition rates for L1, Alu, and SVA elements using WGS data from 33 three-generation pedigrees, finding rates and parent-of-origin effects.

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

This study examines the role of noncoding variation in autism spectrum disorder using whole genome sequencing of 2,076 genomes, finding no significant association after correction for multiple testing.