Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data

Ozren Polasek, Caroline Hayward, Celine Bellenguez, Veronique Vitart, Ivana Kolcić, Ruth McQuillan, Vanja Saftić, Ulf Gyllensten, James F Wilson, Igor Rudan, Alan F Wright, Harry Campbell, Anne-Louise Leutenegger

Research output: Contribution to journalArticlepeer-review

Abstract

Genome-wide homozygosity estimation from genomic data is becoming an increasingly interesting research topic. The aim of this study was to compare different methods for estimating individual homozygosity-by-descent based on the information from human genome-wide scans rather than genealogies. We considered the four most commonly used methods and investigated their applicability to single-nucleotide polymorphism (SNP) data in both a simulation study and by using the human genotyped data. A total of 986 inhabitants from the isolated Island of Vis, Croatia (where inbreeding is present, but no pedigree-based inbreeding was observed at the level of F > 0.0625) were included in this study. All individuals were genotyped with the Illumina HumanHap300 array with 317,503 SNP markers.
Original languageEnglish
Pages (from-to)139
JournalBMC Genomics
Volume11
DOIs
Publication statusPublished - 2010

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