Article

Enhanced disease susceptible variant identification via short identity by descent segments

2023-09-28

Abstract excerpt

Rare diseases affect millions of individuals worldwide, yet diagnostic yields for them still remain low. Among variant identification approaches, identity by descent (IBD) mapping is used to identify disease susceptible variants originating from a recent common ancestor among affected individuals, but existing IBD detection models struggle to identify these variants in short IBD segments. Here, we introduce SILO,...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 735a2c42-6a2b-5381-9764-6007954ab80d
DOI: 10.1101/2023.09.26.559464

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Enhanced disease susceptible variant identification via short identity by descent segmentsDOI 10.1101/2023.09.26.559464Read

Enhanced Disease Susceptible Variant Identification via Short Identity by Descent Segments.Semantic proximity Read

Rare variant enriched identity-by-descent enables the detection of distant relatedness and older divergence between populationsSemantic proximity Read

HapFABIA: identification of very short segments of identity by descent characterized by rare variants in large sequencing data.Semantic proximity Read

Identity by descent between distant relatives: detection and applications.Semantic proximity Read

Rapid detection of identity-by-descent tracts for mega-scale datasets.Semantic proximity Read

Detection of identity by descent using next-generation whole genome sequencing data.Semantic proximity Read

FounderRare: A Novel Statistical Package to Identify Rare Variants in Complex DiseasesSemantic proximity Read

Identity-by-descent detection across 487,409 British samples reveals fine-scale population structure, evolutionary history, and trait associationsSemantic proximity Read

Identity-by-descent detection across 487,409 British samples reveals fine scale population structure and ultra-rare variant associations.Semantic proximity Read

A fast and accurate method for detection of IBD shared haplotypes in genome-wide SNP dataSemantic proximity Read

Detecting identity by descent and estimating genotype error rates in sequence data.Semantic proximity Read

A fast and accurate method for detection of IBD shared haplotypes in genome-wide SNP data.Semantic proximity Read