Analysis of Regions of Homozygosity: Revisited Through New Bioinformatic Approaches

Analysis of Regions of Homozygosity: Revisited Through New Bioinformatic Approaches

<b>Background</b>: Runs of homozygosity (ROHs), continuous homozygous regions across the genome, are often linked to consanguinity, with their size and frequency reflecting shared parental ancestry. Homozygosity mapping (HM) leverages ROHs to identify genes associated with autosomal rece...

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Bibliographic Details
Main Authors: Susana Valente, Mariana Ribeiro, Jennifer Schnur, Filipe Alves, Nuno Moniz, Dominik Seelow, João Parente Freixo, Paulo Filipe Silva, Jorge Oliveira
Format: Article
Language:English
Published: MDPI AG 2024-12-01
Series:BioMedInformatics
Subjects:
regions of homozygosity
bioinformatic model
variant prioritization
whole-exome sequencing
consanguinity
multigene panels
Online Access:https://www.mdpi.com/2673-7426/4/4/128
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