Colin Collins

TL;DR: The implementation of array CGH is demonstrated to be able to measure copy number with high precision in the human genome, and to analyse clinical specimens by obtaining new information on chromosome 20 aberrations in breast cancer.

TL;DR: The flagship paper of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium describes the generation of the integrative analyses of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types, the structures for international data sharing and standardized analyses, and the main scientific findings from across the consortium studies.

TL;DR: Chromosomes can be specifically stained in metaphase spreads and interphase nuclei by in situ hybridization with entire chromosome-specific DNA libraries to inhibit the hybridization of sequences in the library that bind to multiple chromosomes.

TL;DR: Four distinct coding mutations in JAG1 are demonstrated, providing evidence that it is the causal gene for Alagille syndrome, and supporting the hypothesis that haploinsufficiency for this gene is one of the mechanisms causing the Alagile syndrome phenotype.

TL;DR: It is shown that PIK3CA is frequently increased in copy number in ovarian cancers, that the increased copy number is associated with increased Pik3CA transcription, p110α protein expression and PI3-kinase activity and that treatment with the PI3 -kinase inhibitor LY294002 decreases proliferation and increases apoptosis.