Article

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

2020-08-11

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Due to its reduced cost and incomparable advantages, WGS is likely to lead to changes in clinical diagnosis of rare and undiagnosed diseases. However, the sensitivity and breadth of coverage of clinical WGS as a diagnostic test for genetic disorders has not been fully evaluated. Here, the performance of WGS in NA12878, the YH cell line, and the Chinese trios wer...

Topics

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

Identifiers and source

Literature Corpus work: 9def053e-4202-510d-b777-70cacb0dec9d
DOI: 10.21203/rs.3.rs-30015/v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disordersDOI 10.21203/rs.3.rs-30015/v2Read

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

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

Performance characterization of PCR-free whole genome sequencing for clinical diagnosisSemantic proximity Read

[Whole-genome sequencing and its application in the research and diagnoses of genetic diseases].Semantic proximity Read

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed diseaseSemantic proximity Read

Unifying genetic testing: next-generation whole exome sequencing delivers comprehensive insights in a single testSemantic proximity Read

Detection and characterization of copy number variants based on whole-genome sequencing by DNBSEQ platformsSemantic proximity Read

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

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variantsSemantic proximity Read

Comprehensive expanded carrier screening using next-generation sequencing in Southern Chinese couplesSemantic proximity Read

Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases.Semantic proximity Read

Recommendations for whole genome sequencing in diagnostics for rare diseases.Semantic proximity Read