Bipolar disorder (BD) is highly heritable, yet the contribution of rare coding variation remains incompletely characterized. We analyzed sequencing data from 64,435 individuals with BD and 168,101 con...

Diverse human cell types establish specialized functions through lineage- and context-specific regulatory programs. Interpreting non-coding genetic risk requires integrated multi-omic reference maps t...

The genomic regions regulating gene expression are often themselves transcribed into a variety of noncoding RNAs (ncRNAs). However, the regulatory roles of this noncoding transcription remain largely ...

Results from a panel of assays that analyse different aspects of DNA sequence specificity reveal more than 100 new motifs to aid the characterization of putative human transcription factors.

Housekeeping genes maintain robust expression across cell types despite dynamic transcription factor fluctuations, yet their haploinsufficiency is associated with many tissue-specific developmental di...

Results from a panel of assays that analyse different aspects of DNA sequence specificity reveal more than 100 new motifs to aid the characterization of putative human transcription factors.

European Journal of Human Genetics - Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld–Rieger syndrome

Noboru Mizushima is Professor of Biochemistry and Molecular Biology at the University of Tokyo, Japan, where he runs a laboratory studying the mechanisms and physiological functions of autophagy and o...

What OMB’s Proposed Federal Financial Assistance Rule Means in Practice

Russell Vought is going destroy American Science

A free, searchable database of knockout-validated antibody characterisation data covering 155 genes and 1617 antibodies. Includes a free e-learning Academy.

Each month, the editors of Human Genetics and Genomics Advances interview researchers who have published work in the journal. This month, we check in with Adelaide Tovar to discuss her paper "Using a ...

HGSI supports and prepares early-career individuals for professional success and creates a community of researchers committed to achieving ASHG’s vision.

Progress in the use of artificial intelligence (AI) to advance scientific discovery has made it increasingly realistic to envision automated “end-to-end science” (ETES) systems: integrated pipelines t...

Switching of MECP2-e2 to the more efficiently translated e1 isoform up-regulates MeCP2 protein and rescues deficits in RTT iPSC-derived neurons.

Population-scale WGS reveals genetic determinants of persistent EBV DNA, linking immune regulation—especially antigen processing and MHC class II variation—to EBV persistence and heterogeneous di...

The existing ENCODE registry of candidate human and mouse cis-regulatory elements is expanded with the addition of new ENCODE data, integrating new functional data as well as new cell and tissue types...

The Beck Lab is seeking an enthusiastic, independent, and highly motivated postdoctoral fellow to join our innovative research group at the Jackson Laboratory for Genomic Medicine and University of Co...