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The source of most errors in RNA sequencing (RNA-seq) read alignment is in the repetitive structure of the genome and not with the alignment algorithm. Genetic variation away from the reference sequence exacerbates this problem causing reads to be assigned to the wrong location. We developed a metho...
ORGANISM(S): Mus musculus 
Comprehensive sequencing of human cancers has identified recurrent mutations in genes encoding chromatin regulatory proteins. For clear cell renal cell carcinoma (ccRCC), three of the five commonly mutated genes encode the chromatin regulators PBRM1, SETD2, and BAP1. How these mutations alter the ch...
ORGANISM(S): Homo sapiens 
Tiled regions surrounding 5 human genes as 36mers, HBG2, TIMP3, SYN3, FLNA, FBX07. The first three of these genes, we tiled with various mismatch oligos in addition to 'perfect match' oligos. Keywords: Mismatch hybridization experiment Tiled perfect match and various designs of mismatch oligonucleo...
ORGANISM(S): Homo sapiens 
Tiled 10kb region centered around ACT1 gene (YFL039C, CHROMOSOME 6 @ coords 48760-59195), double-stranded, 36mers at 1bp spacing, with mismatches and deletions; also tiled 6 genes of interest (YBL092W, YGR155W, YOL040C, YOR312C, YMR242C, YLR229C), coding strand only, 36mers at 1bp spacing, with some...
ORGANISM(S): Saccharomyces cerevisiae 

The purpose of this project was to conduct a genome-wide associate study to search for the genetic factors that predispose to myasthenia gravis. The rationale for this study lies in the fact that, although the immunological and physiological processes affecting the neuromuscular junctions of myas...

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