Epigenetic clocks comprise a set of CpG sites whose DNA methylation levels measure
subject age. These clocks are acknowledged as a highly accurate molecular correlate of …

Post-translational arginine methylation is responsible for regulation of many biological
processes. The protein arginine methyltransferase 5 (PRMT5, also known as Hsl7, Jbp1 …

MicroRNAs (miRNAs) are short non-coding RNAs with key roles in cellular regulation. As
part of the fifth edition of the Functional Annotation of Mammalian Genome (FANTOM5) …

The Ensembl gene annotation system has been used to annotate over 70 different
vertebrate species across a wide range of genome projects. Furthermore, it generates the …

MicroRNA targets are often recognized through pairing between the miRNA seed region
and complementary sites within target mRNAs, but not all of these canonical sites are …

Identifying functional effects of noncoding variants is a major challenge in human genetics.
To predict the noncoding-variant effects de novo from sequence, we developed a deep …

Identifying pathogenic variants and underlying functional alterations is challenging. To this
end, we introduce MutPred2, a tool that improves the prioritization of pathogenic amino acid …

Methods used to sequence the transcriptome often produce more than 200 million short
sequences. We introduce StringTie, a computational method that applies a network flow …

Transcriptional regulation and posttranscriptional processing underlie many cellular and
organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue …

Recent developments in sequencing techniques have enabled rapid and high-throughput
generation of sequence data, democratizing the ability to compile information on large …