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Heritage 1K: Progress and the Road Ahead

Festive DNA

Two years ago, Utah Genome Project launched Heritage 1K, an initiative to sequence 1,000 genomes to understand the genetic bases of approximately 25 inherited diseases. With the final DNA sequences returned in January, 2017, the 38 projects that make up Heritage 1K are now mining a wealth genomic data with custom bioinformatics analysis tools developed by the USTAR Center for Genetic Discovery. A handful of projects have identified candidate disease genes and are testing them further to understand how they contribute to disease. Heritage 1K investigators gathered on February 28 to report on the progress made so far and the road ahead.

Heritage 1K Milestones:

  • 1,000 genomes sequenced
  • 38 projects
  • 25 hereditary conditions
  • 13 candidate disease genes


Heritage 1K Retreat Program: Round Table


Lynn Jorde Executive Utah Genome Project Director  

H1K Progress Report

Deb Neklason Utah Genome Project Program Director



Shared Genomic Segment analysis: Combatting heterogeneity

Nicola Camp - Internal Medicine, Hematology

Search engine for medical data

Mark Yandell – USTAR Center for Genetic Discovery

Detection and analysis of de novo and family disease variants

Gabor Marth - USTAR Center for Genetic Discovery

Improved diagnosis of seizure disorders through whole genome sequencing

Aaron Quinlan - USTAR Center for Genetic Discovery

Model Organism Advisory Board (MOAB)

Charlie Murtaugh - Human Genetics


Round Table


Premature Menopause

Corrine Welt - Internal Medicine

Tylosis with Esophageal Cancer

Erin Young - Postdoctoral Fellow T32, Genomic Medicine

Chiari Malformations

Douglas Brockmeyer - Neurosurgery, Pediatrics

Tuberous Sclerosis

John Carey and Angela Peron - Pediatric Genetics  


Mick Jurynec - Human Genetics

Breast Cancer Evolution

Andrea Bild - Pharmacology and Toxicology



  • Model organisms/functional tests
  • Utah Population Database
  • Variant Prioritization Tools
  • Shared Genomic Segments
  • Genomic Analysis
  • Return of Genetic Results