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Article

Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model.

The Journal of molecular diagnostics : JMD - 1 Jan 2020

Välipakka Salla, Savarese Marco, Sagath Lydia, Arumilli Meharji, Giugliano Teresa, Udd Bjarne, Hackman Peter

Abstract excerpt

Bioinformatics tools for analyzing copy number variants (CNVs) from massively parallel sequencing (MPS) data are less well developed compared with other variant types. We present an efficient bioinformatics pipeline for CNV detection from gene panel MPS data in neuromuscular disorders. CNVs were generated in silico into samples sequenced with a previously published MPS gene panel. The in silico CNVs from these...

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PMID: 31733349
DOI: 10.1016/j.jmoldx.2019.08.009

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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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