Article

Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms

2024-01-02

Abstract excerpt

Research and medical genomics require comprehensive and scalable solutions to drive the discovery of novel disease targets, evolutionary drivers, and genetic markers with clinical significance. This necessitates a framework to identify all types of variants independent of their size (e.g., SNV/SV) or location (e.g., repeats). Here we present DRAGEN that utilizes novel methods based on multigenomes, hardware accele...

Topics

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

Identifiers and source

Literature Corpus work: acead579-95eb-5f50-8ba9-528126741db3
DOI: 10.1101/2024.01.02.573821

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithmsDOI 10.1101/2024.01.02.573821Read

Comprehensive genome analysis and variant detection at scale using DRAGEN.Semantic proximity Read

Scalable and comprehensive mosaic variant calling using DRAGENSemantic proximity Read

GeNePi: a graphics processing unit enhanced next-generation bioinformatics pipeline for whole-genome sequencing analysis.Semantic proximity Read

Genotyping common, large structural variations in 5,202 genomes using pangenomes, the Giraffe mapper, and the vg toolkitSemantic proximity Read

xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments.Semantic proximity Read

G-VEP: GPU-Accelerated Variant Effect Prediction for Clinical Whole-Genome Sequencing AnalysisSemantic proximity Read

PanVariants: Best Practice for Pangenome-based Variant Calling Pipeline and FrameworkSemantic proximity Read

BALSA: Integrated secondary analysis for whole-genome and whole-exome sequencing, accelerated by GPUSemantic proximity Read

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

xAtlas: Scalable small variant calling across heterogeneous next-generation sequencing experimentsSemantic proximity Read

Fast and accurate DNASeq Variant Calling workflow composed of LUSH toolkitSemantic proximity Read

Accurate and Robust Characterization of Structural Variants at Low Coverages with ARCLIDSemantic proximity Read