MOTIVATION We present an algorithm to identify allelic variation given a Whole Genome Shotgun (WGS) assembly of haploid sequences, and to produce a set of haploid consensus sequences rather than a single consensus sequence. Existing WGS assemblers take a column-by-column approach to consensus generation, and produce a single consensus sequence which can be inconsistent with the underlying haplo...

STACK is a tool for detection and visualisation of expressed transcript variation in the context of developmental and pathological states. The datasystem organizes and reconstructs human transcripts from available public data in the context of expression state. The expression state of a transcript can include developmental state, pathological association, site of expression and isoform of expre...

Yeast carries a strictly conserved branch point sequence (BPS) of UACUAAC, whereas the human BPS is degenerative and is less well characterized. The human consensus BPS has never been extensively explored in vitro to date. Here, we sequenced 367 clones of lariat RT-PCR products arising from 52 introns of 20 human housekeeping genes. Among the 367 clones, a misincorporated nucleotide at the bran...

Captioning models are typically trained using the crossentropy loss. However, their performance is evaluated on other metrics designed to better correlate with human assessments. Recently, it has been shown that reinforcement learning (RL) can directly optimize these metrics in tasks such as captioning. However, this is computationally costly and requires specifying a baseline reward at each st...