PT  - JOURNAL ARTICLE
AU  - Abhinav Nellore
AU  - Andrew E. Jaffe
AU  - Jean-Philippe Fortin
AU  - José Alquicira-Hernández
AU  - Leonardo Collado-Torres
AU  - Siruo Wang
AU  - Robert A. Phillips III
AU  - Nishika Karbhari
AU  - Kasper D. Hansen
AU  - Ben Langmead
AU  - Jeffrey T. Leek
TI  - Human splicing diversity across the Sequence Read Archive
AID  - 10.1101/038224
DP  - 2016 Jan 01
TA  - bioRxiv
PG  - 038224
4099  - http://biorxiv.org/content/early/2016/01/29/038224.short
4100  - http://biorxiv.org/content/early/2016/01/29/038224.full
AB  - We aligned 21,504 publicly available Illumina-sequenced human RNA-seq samples from the Sequence Read Archive (SRA) to the human genome and compared detected exon-exon junctions with junctions in several recent gene annotations. 56,865 junctions (18.6%) found in at least 1,000 samples were not annotated, and their expression associated with tissue type. Newer samples contributed few novel well-supported junctions, with 96.1% of junctions detected in at least 20 reads across samples present in samples before 2013. Junction data is compiled into a resource called intropolis available at http://intropolis.rail.bio. We discuss an application of this resource to cancer involving a recently validated isoform of the ALK gene.