Ontology highlight
ABSTRACT:
SUBMITTER: Besenbacher S
PROVIDER: S-EPMC4309431 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Nature communications 20150119
Building a population-specific catalogue of single nucleotide variants (SNVs), indels and structural variants (SVs) with frequencies, termed a national pan-genome, is critical for further advancing clinical and public health genetics in large cohorts. Here we report a Danish pan-genome obtained from sequencing 10 trios to high depth (50 × ). We report 536k novel SNVs and 283k novel short indels from mapping approaches and develop a population-wide de novo assembly approach to identify 132k novel ...[more]