April 25, 2025

Evaluation of Genomic Proximity Mapping (GPM) for Detecting Genomic and Chromosomal Structural Variants in Constitutional Disorders »

December 5, 2024

An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes

September 22, 2024

Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair for somatic benchmarks

June 1, 2024

Evaluation of Acute Myeloid Leukemia Genomes using Genomic Proximity Mapping

November 21, 2023

Multi-omic analysis of human kidney tissue identified medulla-specific gene expression patterns

February 6, 2023

The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism

February 25, 2021

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

February 13, 2019

Integrated Functional Genomic Analysis Enables Annotation of Kidney Genome-Wide Association Study Loci »

April 22, 2025

Hi-C profiling in tissues reveals 3D chromatin-regulated breast tumor heterogeneity informing a looping-mediated therapeutic avenue »

October 22, 2024

Low PD-L1 expression, MAP2K2 alterations, and enriched HPV gene signatures characterize brain metastases in head and neck squamous cell carcinoma

July 21, 2024

Genetic and functional characterization of inherited complex chromosomal rearrangements in a family with multisystem anomalies

March 13, 2024

Hi-C profiling in tissues reveals 3D chromatin-regulated breast tumor heterogeneity and tumor-specific looping-mediated biological pathways

August 23, 2023

Assembly of 43 human Y chromosomes reveals extensive complexity and variation

March 8, 2021

Differential Expression of α, β, and γ Protocadherin Isoforms During Differentiation, Aging, and Cancer

April 19, 2019

Extended haplotype phasing of de novo genome assemblies with FALCON-Phase »

October 8, 2018

Phase Genomics and Pacific Biosciences Assemble the Most Contiguous Human Genome to Date by Combining Long-Reads and Hi-C Data »