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Splicing Predictions

A University of Toronto team has developed a machine-learning tool that can predict whether a certain genetic variant will affect RNA splicing. As it reports in Science, the group examined more than 650,000 intronic and exonic variants to search for patterns of abnormal splicing due to mutations.

The team developed a computational model using deep learning techniques that can look at input sequences and by its features or cis-elements predict what transcripts will then be expressed in a certain cell, as GenomeWeb's Uduak Grace Thomas reports.

"[We] used machine learning to essentially learn a computational model" whose output "mimics the biochemistry of the cell," senior author Brendan Frey from the University of Toronto tells her.

Such a tool, the Globe and Mail notes, could not only help identify disease-causing mutations, but also ones that make people healthier.

In Science, Frey and his team report that they were able to use their tool to find some 39 genes with splicing aberrations linked to autism, 19 of which they said were compelling ASD candidate genes.

"Computers have been used to read the genome for quite a while, but this is using a computer to interpret and understand the genome," Frey tells the Globe and Mail. "Our system is not perfect, but it works very well."

Filed under

The Scan

Interfering With Invasive Mussels

The Chicago Tribune reports that researchers are studying whether RNA interference- or CRISPR-based approaches can combat invasive freshwater mussels.

Participation Analysis

A new study finds that women tend to participate less at scientific meetings but that some changes can lead to increased involvement, the Guardian reports.

Right Whales' Decline

A research study plans to use genetic analysis to gain insight into population decline among North American right whales, according to CBC.

Science Papers Tie Rare Mutations to Short Stature, Immunodeficiency; Present Single-Cell Transcriptomics Map

In Science this week: pair of mutations in one gene uncovered in brothers with short stature and immunodeficiency, and more.