Mark Diekhans

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• The Vertebrate Genomes Project Phase I: A global reference genome resource

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-06-26

• Abstract 1501: Cancer gene variant identification and functional interpretation using long-read RNA sequencing with FLAIR3

  Cancer Research · 2026-04-03

• Genetic diversity and regulatory features of human-specific NOTCH2NL duplications

  Cell Genomics · 2026-03-30

• SNP calling, haplotype phasing and allele-specific analysis with long RNA-seq reads

  Nature Methods · 2026-03-30 · 1 citations

• Making genomic data FAIR through effective Data Portals

  Scientific Data · 2025-11-28 · 4 citations

• The UCSC Genome Browser database: 2026 update

  Nucleic Acids Research · 2025-11-18 · 73 citations

• Complete sequencing of ape genomes

  Nature · 2025-04-09 · 127 citations

• Genetic diversity and regulatory features of human-specific <i>NOTCH2NL</i> duplicationsPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-03-16 · 2 citations

• GENCODE 2025: reference gene annotation for human and mouse

  Nucleic Acids Research · 2024-11-20 · 327 citations

• The GENCODE CLS project: massively expanding the lncRNA catalog through capture long-read RNA sequencingPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2024-10-31 · 25 citations

• The UCSC Genome Browser database: 2025 update

  Nucleic Acids Research · 2024-10-26 · 579 citations

• Complete sequencing of ape genomesPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2024-07-31 · 25 citations