Ni Huang - Researcher Profile | RDL Research Database

Publications

2 shown

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Daniel G. MacArthur , Suganthi Balasubramanian , Adam Frankish +48 more

Defective Gene Detective Identifying genes that give rise to diseases is one of the major goals of sequencing human genomes. However, putative loss-of-function genes, which are ...

2012 Science 1275 citations

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

Yali Xue , Yuan Chen , Qasim Ayub +8 more

We have assessed the numbers of potentially deleterious variants in the genomes of apparently healthy humans by using (1) low-coverage whole-genome sequence data from 179 indivi...

2012 The American Journal of Human Genetics 277 citations

Frequent Co-Authors

Researcher Info

h-index: 2
Publications: 2
Citations: 1,552
Institution: Wellcome Sanger Institute

External Links

ORCID Profile Google Scholar

Identifiers

ORCID: 0000-0001-8849-038X

Impact Metrics

h-index 2

h-index: Number of publications with at least h citations each.