Article

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery

2026-05-15

Abstract excerpt

Structural variants (SVs) can disrupt gene function and contribute to pathogenesis of rare disorders. Here, we created a genome-wide knockout dataset across 125,730 individuals with genome sequencing data in the UK’s National Genomic Research Library by leveraging the distinct read-depth signal associated with homozygous deletions. We curated 535,699 rare high-confidence homozygous deletion SVs, of which 48,735 we...

Topics

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

Identifiers and source

Literature Corpus work: 3246dc13-49b6-5496-9ecd-fcbdde971f55
DOI: 10.64898/2026.05.13.26352722

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discoveryDOI 10.64898/2026.05.13.26352722Read

Characterization of Rare Genomic Structural Variants Across 2,981 Genomes Reveals Significant Involvements in Recessive ConditionsSemantic proximity Read

Rare-disease genetics in the era of next-generation sequencing: discovery to translation.Semantic proximity Read

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneitySemantic proximity Read

Common deletion polymorphisms in the human genome.Semantic proximity Read

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project dataSemantic proximity Read

A deep catalogue of protein-coding variation in 983,578 individuals.Semantic proximity Read

Non-coding variants are a rare cause of recessive developmental disorders<i>in trans</i>with coding variantsSemantic proximity Read

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersSemantic proximity Read

A deep catalog of protein-coding variation in 985,830 individualsSemantic proximity Read

<i>SETBP1</i>variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorderSemantic proximity Read

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomesSemantic proximity Read

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testingSemantic proximity Read