Clinical validation of a single NGS targeted panel pipeline using the KAPA HyperChoice system for detection of germline, somatic and mitochondrial sequence and copy number variants-Reference-Cited by-同舟云学术

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Clinical validation of a single NGS targeted panel pipeline using the KAPA HyperChoice system for detection of germline, somatic and mitochondrial sequence and copy number variants

Published:2023-08-12 Issue:9 Volume:23 Page:827-841
ISSN:1473-7159
Container-title:Expert Review of Molecular Diagnostics
language:en
Short-container-title:Expert Review of Molecular Diagnostics

Author:

Kerkhof Jennifer¹^ORCID,Rastin Cassandra¹,Schenkel Laila¹²,Lin Hanxin¹²,Sadikovic Bekim¹²

Affiliation:

1. Molecular Genetics Laboratory, Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada

2. Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada

Funder

the London Health Sciences Molecular Genetics Laboratory research and development fund

Publisher

Informa UK Limited

Subject

Genetics,Molecular Biology,Molecular Medicine,Pathology and Forensic Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/14737159.2023.2245747

Reference35 articles.

1. One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants

2. Application of Next Generation Sequencing in Laboratory Medicine

3. Review of Clinical Next-Generation Sequencing

4. Designing and Implementing NGS Tests for Inherited Disorders

5. CCMG practice guideline: laboratory guidelines for next-generation sequencing

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