Best practices for variant calling in clinical sequencing

Best practices for variant calling in clinical sequencing

Abstract Next-generation sequencing technologies have enabled a dramatic expansion of clinical genetic testing both for inherited conditions and diseases such as cancer. Accurate variant calling in NGS data is a critical step upon which virtually all downstream analysis and interpretation processes...

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Bibliographic Details
Main Author: Daniel C. Koboldt
Format: Article
Language:English
Published: BMC 2020-10-01
Series:Genome Medicine
Subjects:
Next-generation sequencing
Variant calling
Mutation detection
Clinical sequencing
Cancer sequencing
Best practices
Online Access:http://link.springer.com/article/10.1186/s13073-020-00791-w

Internet

http://link.springer.com/article/10.1186/s13073-020-00791-w

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