The mutation spectrum revealed by paired genome sequences from a lung cancer patient

Study ID Alternative Stable ID Type
phs000299 Single Patient

Study Description

Whole genome sequencing was applied to tumor and adjacent normal lung tissue in an individual non-small-cell lung cancer patient. We present an analysis of somatic changes identified throughout the tumor genome, including single-nucleotide variants, copy number variants, and large-scale chromosomal rearrangements. Over 50,000 high-confidence single-nucleotide variants were identified, revealing evidence of substantial smoking-related DNA damage as well as distinct mutational pressures within the tumor resulting in uneven distribution of somatic mutations across the genome.

Archive Link Archive Accession
dbGaP phs000299

Who archives the data?

There are no publications available