載入...

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...

全面介紹

Na minha lista:
書目詳細資料
發表在:BMC Med Genomics
Main Authors: Rao, Aliz R., Nelson, Stanley F.
格式: Artigo
語言:Inglês
出版: BioMed Central 2018
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6001062/
https://ncbi.nlm.nih.gov/pubmed/29898714
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0371-9
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!