Please use this identifier to cite or link to this item: doi:10.22028/D291-28701
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Title: Haplotype-aware diplotyping from noisy long reads
Author(s): Ebler, Jana
Haukness, Marina
Pesout, Trevor
Marschall, Tobias
Paten, Benedict
Language: English
Title: Genome biology
Volume: 20
Issue: 1
Startpage: 116
Publisher/Platform: BioMed Central
Year of Publication: 2019
Publikation type: Journal Article
Abstract: 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 of linkage information provided by long reads. We validate hundreds of thousands of candidate variants that have not yet been included in the high-confidence reference set of the Genome-in-a-Bottle effort.
DOI of the first publication: 10.1186/s13059-019-1709-0
Link to this record: hdl:20.500.11880/27704
ISSN: 1474-760X
Date of registration: 7-Sep-2019
Faculty: MI - Fakultät für Mathematik und Informatik
Department: MI - Informatik
Professorship: MI - Prof. Dr. Tobias Marschall
Collections:Die Universitätsbibliographie

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