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Article

Use of RAPTR-SV to Identify SVs from Read Pairing and Split Read Signatures.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2018

Bickhart Derek M

Abstract excerpt

High-throughput short read sequencing technologies are still the leading cost-effective means of assessing variation in individual samples. Unfortunately, while such technologies are eminently capable of detecting single nucleotide polymorphisms (SNP) and small insertions and deletions, the detection of large copy number variants (CNV) with these technologies is prone to numerous false positives. CNV detection...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 30039370
DOI: 10.1007/978-1-4939-8666-8_11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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