Article

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease

2018-02-12

Abstract excerpt

<h4>Purpose</h4> Current diagnostic testing for genetic disorders involves serial use of specialized assays spanning multiple technologies. In principle, whole genome sequencing (WGS) has the potential to detect all genomic mutation types on a single platform and workflow. Here we sought to evaluate copy number variant (CNV) calling as part of a clinically accredited WGS test. <h4>Methods</h4> Using a depth-base...

Topics

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

Identifiers and source

Literature Corpus work: 4163333b-9a0c-5812-b5db-afdc5efeccca
DOI: 10.1101/245100

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed diseaseDOI 10.1101/245100Read

Whole-Genome Sequencing is a Viable Replacement for Chromosomal Microarray and Fragile X PCR TestingSemantic proximity Read

Benchmarking of Germline Copy Number Variant Callers from Whole Genome Sequencing Data for Clinical ApplicationsSemantic proximity Read

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disordersSemantic proximity Read

Systematic and comprehensive benchmarking of an exome sequencing based germline copy-number analysis pipeline to detect clinically relevant CNVsSemantic proximity Read

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disordersSemantic proximity Read

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.Semantic proximity Read

JAX-CNV: A whole genome sequencing-based algorithm for copy number detection at clinical grade levelSemantic proximity Read

A comparison of tools for copy-number variation detection in germline whole exome and whole genome sequencing dataSemantic proximity Read

Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical settingSemantic proximity Read

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic diseaseSemantic proximity Read

Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical settingSemantic proximity Read

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.Semantic proximity Read