Alternative splicing (AS) serves as a pivotal mechanism in transcriptional regulation,
engendering transcript diversity, and modifications in protein structure and functionality …

Since the discovery of RNA splicing and its role in gene expression, researchers have
sought a set of rules, an algorithm or a computational model that could predict the splice …

Expression and splicing quantitative trait loci (e/sQTL) are large contributors to phenotypic
variability. Achieving sufficient statistical power for e/sQTL mapping requires large cohorts …

Detection of aberrantly spliced genes is an important step in RNA-seq-based rare-disease
diagnostics. We recently developed FRASER, a denoising autoencoder-based method that …

Background Variants that disrupt mRNA splicing account for a sizable fraction of the
pathogenic burden in many genetic disorders, but identifying splice-disruptive variants …

X-linked hypophosphatemia (XLH) is caused by dominant inactivating mutations in the
phosphate regulating endopeptidase homology, X-linked (PHEX), resulting in elevated …

Rare genetic variants can have strong effects on phenotypes, yet accounting for rare
variants in genetic analyses is statistically challenging due to the limited number of allele …

Background The adoption of whole-genome sequencing in genetic screens has facilitated
the detection of genetic variation in the intronic regions of genes, far from annotated splice …

The etiologies of newborn deaths in neonatal intensive care units usually remain unknown,
even after genetic testing. Whole-genome sequencing, combined with artificial intelligence …

The ability to sequence entire exomes and genomes has revolutionized molecular testing in
rare movement disorders, and genomic sequencing is becoming an integral part of routine …