In addition, we verified 6010 exon-exon splice junctions within existing WormBase gene models.

Candidates were classified into three categories, reflecting the previous annotations of the putative splice junctions.

A number of RNA-Seq algorithms are available, and claim to align reads with high accuracy and efficiency while detecting splice junctions.

The entire coding region and splice junctions of Akt2 were directly sequenced in these 23 probands.

The results demonstrated that human MnSOD is a single-copy gene consisting of five exons interrupted by four introns with typical splice junctions.

To test this hypothesis, we have developed an algorithm, SAGE2Splice , to efficiently map SAGE tags to potential splice junctions in a genome.

A total of 27 coding exons of TCOF1 and adjacent splice junctions were analysed by direct sequencing.

We hypothesized that mutations near rare alternate splice junctions in ABCA4 might cause disease by increasing the probability of mis-splicing at these sites.

Thus we infer that it is the positions of splice junctions in the gene that must be under constraint by the local protein environment.

We have discovered that positions of splice junctions in genes are constrained by the tolerance for disorder-promoting amino acids in the translated protein region.

We found no mutations, and conclude that schizophrenia is rarely, if ever, due to a mutation in the coding sequence or splice junctions of KAL-X.