Benchmark and validation of whole exome sequencing of a trio and singleton

ABSTRACT: Whole exome paired-end sequencing data was obtained for a trio and a fourth unrelated individual sequenced to high depth (95x) using a paired-end library with the Illumina HiSeq platform and aligned by BWA 0.5.9. The bam files were analysed and experimentally vaidated for the novel insertion of mobile elements.

PROVIDER: EGAS00001000852 | EGA |

REPOSITORIES: EGA