Study

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

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