Ontology highlight
ABSTRACT:
SUBMITTER: Ebler J
PROVIDER: S-EPMC6547545 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Genome biology 20190603 1
Current genotyping approaches for single-nucleotide variations rely on short, accurate reads from second-generation sequencing devices. Presently, third-generation sequencing platforms are rapidly becoming more widespread, yet approaches for leveraging their long but error-prone reads for genotyping are lacking. Here, we introduce a novel statistical framework for the joint inference of haplotypes and genotypes from noisy long reads, which we term diplotyping. Our technique takes full advantage ...[more]