Calculating the statistical significance of rare variants causal for Mendelian and complex disorders

Calculating the statistical significance of rare variants causal for Mendelian and complex disorders

Abstract Background With the expanding use of next-gen sequencing (NGS) to diagnose the thousands of rare Mendelian genetic diseases, it is critical to be able to interpret individual DNA variation. To calculate the significance of finding a rare protein-altering variant in a given gene, one must kn...

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Bibliographic Details
Main Authors: Aliz R. Rao, Stanley F. Nelson
Format: Article
Language:English
Published: BMC 2018-06-01
Series:BMC Medical Genomics
Subjects:
SORVA
Intolerance
Genes
Protein domains
Mutational burden
Significance
Online Access:http://link.springer.com/article/10.1186/s12920-018-0371-9

Internet

http://link.springer.com/article/10.1186/s12920-018-0371-9

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