Germline and somatic variant identification using BGISEQ-500 and HiSeq X Ten whole genome sequencing.

ABSTRACT: Technological innovation and increased affordability have contributed to the widespread adoption of genome sequencing technologies in biomedical research. In particular large cancer research consortia have embraced next generation sequencing, and have used the technology to define the somatic mutation landscape of multiple cancer types. These studies have primarily utilised the Illumina HiSeq platforms. In this study we performed whole genome sequencing of three malignant pleural mesothelioma and matched normal samples using a new platform, the BGISEQ-500, and compared the results obtained with Illumina HiSeq X Ten. Germline and somatic, single nucleotide variants and small insertions or deletions were independently identified from data aligned human genome reference. The BGISEQ-500 and Hi

SUBMITTER: Patch AM 

PROVIDER: S-EPMC5761881 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature