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
Perspective
Short arms of human acrocentric chromosomes and the completion of the human genome sequence
- First Published March 31, 2022
Method
Sequence-based correction of barcode bias in massively parallel reporter assays
- First Published July 20, 2021
Resource
A chromosome-level assembly of the Atlantic herring genome—detection of a supergene and other signals of selection
- First Published October 24, 2019
Method
Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants
- First Published August 23, 2018
Research
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection
- First Published December 13, 2017