Article

Analysis and prediction of the effects of single amino acid variants in human disease

2015-01-01

Abstract excerpt

Over the past fifty years, the genetic bases for many human diseases have been discovered. Genome-wide association studies (GWAS) have pin-pointed genetic loci containing disease-associated variants, which can be probed in more detail using targeted DNA sequencing and imputation. The falling cost of DNA sequencing has led to the adoption of whole-genome and whole-exome sequencing, enabling more of the genome to be...

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Literature Corpus work: f46d401b-898f-54f5-b528-db99df9fc819
DOI: 10.25560/44953

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