Now showing items 1-3 of 3
Screening the human exome: a comparison of whole genome and whole transcriptome sequencing.
(Genome Biol, 2010)
BACKGROUND: There is considerable interest in the development of methods to efficiently identify all coding variants present in large sample sets of humans. There are three approaches possible: whole-genome sequencing, ...
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
(Genet Med, 2014-10)
PURPOSE: The endoplasmic reticulum-associated degradation pathway is responsible for the translocation of misfolded proteins across the endoplasmic reticulum membrane into the cytosol for subsequent degradation by the proteasome. ...
The characterization of twenty sequenced human genomes.
(PLoS Genet, 2010-09-09)
We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals ...