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 …

The ErbB receptor family, also known as the EGF receptor family or type I receptor family,
includes the epidermal growth factor (EGF) receptor (EGFR) or ErbB1/Her1, ErbB2/Her2 …

Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a
substantial proportion of patients, sequence information restricted to exons and exon–intron …

The integration of artificial intelligence technologies has propelled the progress of clinical
and genomic medicine in recent years. The significant increase in computing power has …

Despite considerable progress in genome-and proteome-based high-throughput screening
methods and in rational drug design, the increase in approved drugs in the past decade did …

Recent improvements in experimental and computational techniques that are used to study
the transcriptome have enabled an unprecedented view of RNA processing, revealing many …

A substantial fraction of disease-causing mutations are pathogenic through aberrant
splicing. Although genome profiling studies have identified somatic single-nucleotide …

In this paper, we provide an introduction to machine learning tasks that address important
problems in genomic medicine. One of the goals of genomic medicine is to determine how …

Purpose Diagnosis of genetic disorders is hampered by large numbers of variants of
uncertain significance (VUSs) identified through next-generation sequencing. Many such …

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 …