Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups
of inherited diseases. The vast phenotypic overlap with other disease entities together with …

SpliceAI is an open-source deep learning splicing prediction algorithm that has
demonstrated in the past few years its high ability to predict splicing defects caused by DNA …

Background The majority of clinical genetic testing focuses almost exclusively on regions of
the genome that directly encode proteins. The important role of variants in non-coding …

BACKGROUND Transcriptome sequencing (RNA-seq) improves diagnostic rates in
individuals with suspected Mendelian conditions to varying degrees, primarily by directing …

Purpose Genetic variants causing aberrant premessenger RNA splicing are increasingly
being recognized as causal variants in genetic disorders. In this study, we devise …

Mutations which affect splicing are significant contributors to rare disease, but are frequently
overlooked by diagnostic sequencing pipelines. Greater ascertainment of pathogenic …

Hereditary disorders are frequently caused by genetic variants that affect pre‐messenger
RNA splicing. Though genetic variants in the canonical splice motifs are almost always …

Importance Personalized surveillance, prophylaxis, and cancer treatment options for
individuals with hereditary cancer predisposition are informed by results of germline genetic …

Genome sequencing (GS) is a powerful test for the diagnosis of rare genetic disorders.
Although GS can enumerate most non-coding variation, determining which non-coding …

Variants that alter gene splicing are estimated to comprise up to a third of all disease-
causing variants, yet they are hard to predict from DNA sequencing data alone. To overcome …