Amino acid changes in disease-associated variants differ radically from variants observed in the 1000 genomes project dataset.

The 1000 Genomes Project data provides a natural background dataset for amino acid germline mutations in humans. Since the direction of mutation is known, the amino acid exchange matrix generated from the observed nucleotide variants is asymmetric and the mutabilities of the different amino acids ar...

Full description

Bibliographic Details
Main Authors: Tjaart A P de Beer, Roman A Laskowski, Sarah L Parks, Botond Sipos, Nick Goldman, Janet M Thornton
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS Computational Biology
Online Access:http://europepmc.org/articles/PMC3861039?pdf=render