Virginie Petitjean

TL;DR: Using an optimized platform, the relative sensitivities of the heterozygous and homozygous deletion collections for nearly 1800 biologically active compounds are provided, providing unique insights into pathways that are sensitive and resistant to a given perturbation.

TL;DR: The ribosomal RNA depletion protocol from Illumina works very well at amounts far below recommendation and over a good range of intact and degraded material, and the exome-capture protocol (RNA Access, Illumina) performs better than other methods on highly degraded and low amount samples.

TL;DR: In this article, a systematic interrogation of somatic mutations in paired tumor-normal cell lines to identify factors affecting detection reproducibility and accuracy at six different centers was conducted, using whole-genome sequencing and whole-exome sequencing (WES).

TL;DR: Two reference samples for NGS technologies: a human triple-negative breast cancer cell line and a matched normal cell line are characterized to facilitate assay development, qualification, validation, and proficiency testing and “truth sets” are defined using evidence from 21 repeats of WGS runs with coverages ranging from 50X to 100X.

TL;DR: In this article, the SEQC2 consortium established paired tumor-normal reference samples and generated whole-genome (WGS) and whole-exome sequencing (WES) data using sixteen library protocols, seven sequencing platforms at six different centers.