Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads.

ABSTRACT: We introduce Aquila, a new approach to variant discovery in personal genomes, which is critical for uncovering the genetic contributions to health and disease. Aquila uses a reference sequence and linked-read data to generate a high quality diploid genome assembly, from which it then comprehensively detects and phases personal genetic variation. The contigs of the assemblies from our libraries cover >95% of the human reference genome, with over 98% of that in a diploid state. Thus, the assemblies support detection and accurate genotyping of the most prevalent types of human genetic variation, including single nucleotide polymorphisms (SNPs), small insertions and deletions (small indels), and structural variants (SVs), in all but the most difficult regions. All heterozygous variants are pha

SUBMITTER: Zhou X 

PROVIDER: S-EPMC7889865 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature