Back

Deep learning discerns cancer mutation exclusivity

Gupta, P.; Jindal, A.; Jayadeva, J.; Sengupta, D.

2020-04-10 bioinformatics
10.1101/2020.04.09.022731 bioRxiv
Show abstract

The exclusivity of a vast majority of cancer mutations remains poorly understood, despite the availability of large amounts of whole genome and exome sequencing data. In clinical settings, this markedly hinders the identification of the previously uncharacterized deleterious mutations due to the unavailability of matched normal samples. We employed state of the art deep learning algorithms for cross-exome learning of mutational embeddings and demonstrated their utility in sequence based detection of cancer-specific Single Nucleotide Variants (SNVs).

Matching journals

The top 4 journals account for 50% of the predicted probability mass.

50% of probability mass above

"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.