Research
Characterizing cytosine methylation of polymorphic transposable element insertions using the human pangenome resources
- First Published May 14, 2026
Research
Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia
- First Published April 15, 2025
Research
Gaps and complex structurally variant loci in phased genome assemblies
- First Published May 10, 2023
Resource
Precision environmental health monitoring by longitudinal exposome and multi-omics profiling
- First Published June 6, 2022
Perspective
Short arms of human acrocentric chromosomes and the completion of the human genome sequence
- First Published March 31, 2022
Resource
A chromosome-level assembly of the Atlantic herring genome—detection of a supergene and other signals of selection
- First Published October 24, 2019
Research
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection
- First Published December 13, 2017
Method
Microfluidic isoform sequencing shows widespread splicing coordination in the human transcriptome
- First Published December 1, 2017