Ian Campbell

Phylogenetic analysis of paired breast carcinomas identifies genetic events associated with clonal recurrence and invasive progression

The paper analyzes paired breast carcinomas to determine if recurrences are clonal or new tumors, finding 7% are non-clonal by whole exome sequencing.

Integrating breast tumor homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification

This paper integrates tumor homologous recombination deficiency status with germline BRCA1 and BRCA2 variant classification to improve pathogenicity prediction.

Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer

This study uses exome sequencing to identify HELB as a novel susceptibility gene for non-high grade serous epithelial ovarian cancer, with a strong association found in genetic analyses.

A scalable, multi-resolution consensus clustering approach for prioritising robust signals from high-throughput screens

This paper introduces a consensus clustering method to identify robust signals from high-throughput screens by analyzing multi-scale data organization in cancer cell lines and bacterium models.

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.

The genetic analysis of a founder Northern American population of European descent identifies FANCI as a candidate familial ovarian cancer risk gene

This paper identifies FANCI c.1813C>T as a candidate familial ovarian cancer risk allele in a French Canadian population with founder effects.

Population based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high grade serous ovarian cancer

Enhancer architecture sensitizes cell specific responses to Notch gene dose via a bind and discard mechanism

The paper shows that an enhancer with specific binding sites can induce Notch haploinsufficiency phenotypes in Drosophila with wild-type Notch gene dose by promoting rapid Notch turnover through a bind and discard mechanism.

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.

Shared heritability and functional enrichment across six solid cancers

This study quantifies genetic correlations between six solid cancers and other diseases using GWAS data, finding shared heritability and functional enrichment in regulatory regions.

The cis-regulatory logic underlying abdominal Hox-mediated repression versus activation of regulatory elements in Drosophila

This study investigates how abdominal Hox factors regulate distinct cis-regulatory elements in Drosophila by comparing activation and repression mechanisms.