The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. This dataset was obtained from exome analyses of people with heredita
Though powerful, short-read high throughput RNA sequencing is limited in its ability to directly measure exon connectivity in mRNAs containing multiple alternative exons located farther apart than the
Popgenie enrichment of genes with protein domains affected by alternative splicing relative to the longest or most expressed isoform of a gene in Populus deltoides. Additionally a tab for the enrichme