The Mixed-Lineage Leukemia (MLL) protein is a histone methyltransferase that is mutated
in clinically and biologically distinctive subsets of acute leukemia. MLL normally associates …

Gastrointestinal stromal tumors (GIST) occur primarily in the wall of the intestine and are
characterized by activating mutations in the receptor tyrosine kinases genes KIT or PDGFRA. …

Accurate prediction of the functional effect of genetic variation is critical for clinical genome
interpretation. We systematically characterized the transcriptome effects of protein-truncating …

A hexanucleotide-repeat expansion in C9ORF72 is the most common genetic variant that
contributes to amyotrophic lateral sclerosis and frontotemporal dementia 1 , 2 . The C9ORF72 …

Glycogen synthase kinase 3 (GSK3) is a multifunctional serine/threonine kinase that participates
in numerous signalling pathways involved in diverse physiological processes. Several …

Purpose Current clinical genomics assays primarily utilize short-read sequencing (SRS),
but SRS has limited ability to evaluate repetitive regions and structural variants. Long-read …

It is estimated that 350 million individuals worldwide suffer from rare diseases, which are
predominantly caused by mutation in a single gene 1 . The current molecular diagnostic rate is …

Short insertions and deletions (indels) are the second most abundant form of human genetic
variation, but our understanding of their origins and functional effects lags behind that of …

Genomic imprinting is an important regulatory mechanism that silences one of the parental
copies of a gene. To systematically characterize this phenomenon, we analyze tissue …

Genomic imprinting is an epigenetic process that restricts gene expression to either the
maternally or paternally inherited allele 1 , 2 . Many theories have been proposed to explain its …