The lack of samples for generating standardized DNA datasets for setting up a sequencing pipeline or benchmarking the performance of different algorithms limits the implementation and uptake of cancer genomics. Here, we describe reference call sets obtained from paired tumor-normal genomic DNA (gDNA) samples derived from a breast cancer cell line-which is highly heterogeneous, with an aneuploid genome, and enriched in somatic alterations-and a matched lymphoblastoid cell line. We partially validated both somatic mutations and germline variants in these call sets via whole-exome sequencing (WES) with different sequencing platforms and targeted sequencing with >2,000-fold coverage, spanning 82% of genomic regions with high confidence. Although the gDNA reference samples are not representative of primary cancer cells from a clinical sample, when setting up a sequencing pipeline, they not only minimize potential biases from technologies, assays and informatics but also provide a unique resource for benchmarking 'tumor-only' or 'matched tumor-normal' analyses.

• MeSH
• Benchmarking * MeSH
• Datasets as Topic MeSH
• Humans MeSH
• Mutation MeSH
• DNA Mutational Analysis standards   MeSH
• Cell Line, Tumor MeSH
• Breast Neoplasms genetics   MeSH
• Reference Standards MeSH
• Reproducibility of Results MeSH
• Whole Genome Sequencing standards   MeSH
• High-Throughput Nucleotide Sequencing standards   MeSH
• Germ Cells MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Research Support, N.I.H., Extramural MeSH

• MeSH
• European Union MeSH
• Research MeSH
• Publication type
• Abstracts MeSH
• Geographicals
• Europe MeSH

• Conspectus
• Veřejné zdraví a hygiena
• NML Fields
• veřejné zdravotnictví
• politologie, politika, zdravotní politika

• About
• Commission of the European Communities. Biomedical and Health Research Programme Authority