Article

A deep learning framework for structural variant discovery and genotyping

2022-05-01

Abstract excerpt

Structural variants (SV) are a major driver of genetic diversity and disease in the human genome and their discovery is imperative to advances in precision medicine and our understanding of human genetics. Existing SV callers rely on hand-engineered features and heuristics to model SVs, which cannot easily scale to the vast diversity of SV types nor fully harness all the information available in sequencing dataset...

Topics

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

Identifiers and source

Literature Corpus work: c9430915-31f8-5577-bb0e-1f4636821206
DOI: 10.1101/2022.04.30.490167

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A deep learning framework for structural variant discovery and genotypingDOI 10.1101/2022.04.30.490167Read

Cue: a deep-learning framework for structural variant discovery and genotyping.Semantic proximity Read

sv-channels: filtering genomic deletions using one-dimensional convolutional neural networksSemantic proximity Read

NPSV-deep: a deep learning method for genotyping structural variants in short read genome sequencing data.Semantic proximity Read

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

Population-level structural variant characterization from pangenome graphSemantic proximity Read

MAMnet: detecting and genotyping deletions and insertions based on long reads and a deep learning approach.Semantic proximity Read

A comprehensive review of deep learning-based variant calling methods.Semantic proximity Read

Clairvoyante: a multi-task convolutional deep neural network for variant calling in Single Molecule SequencingSemantic proximity Read

Population-level structural variant characterization using pangenome graphs.Semantic proximity Read

Pangenome-aware DeepVariantSemantic proximity Read

SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes.Semantic proximity Read

Machine learning-based prediction of human structural variation and characterization of associated sequence determinantsSemantic proximity Read