Article

Automated Structural Variant Verification in Human Genomes using Single-Molecule Electronic DNA Mapping

2017-05-22

Abstract excerpt

The importance of structural variation in human disease and the difficulty of detecting structural variants larger than 50 base pairs has led to the development of several long-read sequencing technologies and optical mapping platforms. Frequently, multiple technologies and ad hoc methods are required to obtain a consensus regarding the location, size and nature of a structural variant, with no approach able to re...

Topics

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

Identifiers and source

Literature Corpus work: 42b2e95b-14fa-5932-baa8-e38b17a3a0d1
DOI: 10.1101/140699

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Automated Structural Variant Verification in Human Genomes using Single-Molecule Electronic DNA MappingDOI 10.1101/140699Read

A robust benchmark for germline structural variant detectionSemantic proximity Read

Accurate identification of structural variations from cancer samplesSemantic proximity Read

Accurate detection of complex structural variations using single molecule sequencingSemantic proximity Read

Improved structural variant discovery in hard-to-call regions using sample-specific string detection from accurate long readsSemantic proximity Read

VolcanoSV enables accurate and robust structural variant calling in diploid genomes from single-molecule long read sequencingSemantic proximity Read

Identification of Somatic Structural Variants in Solid Tumors By Optical Genome MappingSemantic proximity Read

svclassify: a method to establish benchmark structural variant callsSemantic proximity Read

svclassify: a method to establish benchmark structural variant calls.Semantic proximity Read

Full characterization of unresolved structural variation through long-read sequencing and optical genome mappingSemantic proximity Read

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

Machine learning-based detection of insertions and deletions in the human genomeSemantic proximity Read

Blackbird: structural variant detection using synthetic and low-coverage long-readsSemantic proximity Read