Article

A scalable framework enables phenome-wide association of structural variants in biobank cohorts

2026-08-06

Abstract excerpt

<title>Abstract</title> <p>Genomic structural variants (SVs) constitute a major source of human genetic diversity and disease susceptibility. Yet, population-scale SV genetics lacks a viable mechanism to synthesize massive individualized callsets into reliable cohort resources. Traditional heuristic tools force a compromise between memory exhaustion and precision degradation, severely limiting their scalability....

Topics

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

Identifiers and source

Literature Corpus work: 7eeee2ad-8e86-5046-aa4b-daa4b097c9ec
DOI: 10.21203/rs.3.rs-10237876/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A scalable framework enables phenome-wide association of structural variants in biobank cohortsDOI 10.21203/rs.3.rs-10237876/v1Read

<i>Celeste</i>: A cloud-based genomics infrastructure with variant-calling pipeline suited for population-scale sequencing projectsSemantic proximity Read

Ultra-secure storage and analysis of genetic data for the advancement of precision medicineSemantic proximity Read

Efficient genotype compression and analysis of large genetic variation datasetsSemantic proximity Read

Embarrassingly_FASTA: Enabling Recomputable, Population-Scale Pangenomics by Reducing Commercial Genome Processing Costs from $100 to less than $1Semantic proximity Read

GLnexus: joint variant calling for large cohort sequencingSemantic proximity Read

Efficient storage and regression computation for population-scale genome sequencing studiesSemantic proximity Read

bronko: ultrafast, alignment-free detection of viral genome variationSemantic proximity Read

Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics.Semantic proximity Read

Sparse Project VCF: efficient encoding of population genotype matricesSemantic proximity Read

DiGeST: Distributed Computing for Scalable Gene and Variant Ranking with Hadoop/SparkSemantic proximity Read

cuBayes: GPU accelerated FreeBayes that achieves 1-minute whole-genome SNV calling while maintaining algorithmic semanticsSemantic proximity Read

SECRET-GWAS: Confidential Computing for Population-Scale GWASSemantic proximity Read