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

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 know the f...

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Detalles Bibliográficos
Autores principales: Rao, Aliz R., Nelson, Stanley F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Technical Advance
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001062/
https://www.ncbi.nlm.nih.gov/pubmed/29898714
http://dx.doi.org/10.1186/s12920-018-0371-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001062/
https://www.ncbi.nlm.nih.gov/pubmed/29898714
http://dx.doi.org/10.1186/s12920-018-0371-9

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