Interpreting the effects of genetic variants is key to understanding individual susceptibility to
disease and designing personalized therapeutic approaches. Modern experimental …

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 …

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic
component. Recently developed genomic technologies, including microarray and next …

Metabolism is a major regulator of immune cell function, but it remains difficult to study the
metabolic status of individual cells. Here, we present Compass, an algorithm to characterize …

The CCCTC-binding factor (CTCF) works together with the cohesin complex to drive the
formation of chromatin loops and topologically associating domains, but its role in gene …

Abstract N 6-Methyladenosine (m6A) is the most prevalent RNA modification on mRNAs and
lncRNAs. It plays a pivotal role during various biological processes and disease …

The arrangement (syntax) of transcription factor (TF) binding motifs is an important part of the
cis-regulatory code, yet remains elusive. We introduce a deep learning model, BPNet, that …

Reconstructing the sequence of circular RNAs (circRNAs) from short RNA sequencing reads
has proved challenging given the similarity of circRNAs and their corresponding linear …

Topologically associating domains (TADs) are fundamental units of three-dimensional (3D)
nuclear organization. The regions bordering TADs—TAD boundaries—contribute to the …

The Pacific region is of major importance for addressing questions regarding human
dispersals, interactions with archaic hominins and natural selection processes. However, the …