Evaluation of Quality Assessment Protocols for High Throughput Genome Resequencing Data.

ABSTRACT: Large-scale initiatives aiming to recover the complete sequence of thousands of human genomes are currently being undertaken worldwide, concurring to the generation of a comprehensive catalog of human genetic variation. The ultimate and most ambitious goal of human population scale genomics is the characterization of the so-called human "variome," through the identification of causal mutations or haplotypes. Several research institutions worldwide currently use genotyping assays based on Next-Generation Sequencing (NGS) for diagnostics and clinical screenings, and the widespread application of such technologies promises major revolutions in medical science. Bioinformatic analysis of human resequencing data is one of the main factors limiting the effectiveness and general applicability of N

SUBMITTER: Chiara M 

PROVIDER: S-EPMC5500642 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature