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Method

Genealogy-based trait association with LOCATER boosts power at loci with allelic heterogeneity

  • First Published April 16, 2026
Method

Highly accurate assembly polishing with DeepPolisher

  • First Published May 19, 2025
Research

cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia" > 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
In memoriam

Haig H. Kazazian, Jr. (1937–2022)

  • First Published March 21, 2022
Research

Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes

  • First Published September 20, 2021
Resource

A limited set of transcriptional programs define major cell types

  • First Published July 29, 2020
Resource

Dynamics of microRNA expression during mouse prenatal development

  • First Published October 23, 2019
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