As a data-driven science, genomics largely utilizes machine learning to capture
dependencies in data and derive novel biological hypotheses. However, the ability to extract …

The removal of introns from mRNA precursors and its regulation by alternative splicing are
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …

Background Splicing of genomic exons into mRNAs is a critical prerequisite for the accurate
synthesis of human proteins. Genetic variants impacting splicing underlie a substantial …

Sequence-based machine-learning models trained on genomics data improve genetic
variant interpretation by providing functional predictions describing their impact on the cis …

Abstract The Zero Childhood Cancer Program is a precision medicine program to benefit
children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline …

Aberrant splicing is a major cause of genetic disorders but its direct detection in
transcriptomes is limited to clinically accessible tissues such as skin or body fluids. While …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …

Rare coding variants that substantially affect function provide insights into the biology of a
gene,–. However, ascertaining the frequency of such variants requires large sample sizes …

Aberrant splicing is a major cause of rare diseases. However, its prediction from genome
sequence alone remains in most cases inconclusive. Recently, RNA sequencing has proven …

RNA sequencing (RNA-seq) has emerged as a powerful approach to discover disease-
causing gene regulatory defects in individuals affected by genetically undiagnosed rare …