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
OVERVIEW
Lynn Jorde Executive Utah Genome Project Director
H1K Progress Report
Deb Neklason Utah Genome Project Program Director
GENOMIC ANALYSIS
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
FLASH TALKS
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
Osteoarthritis
Mick Jurynec - Human Genetics
Breast Cancer Evolution
Andrea Bild - Pharmacology and Toxicology
ROUND TABLE DISCUSSIONS
- Model organisms/functional tests
- Utah Population Database
- Variant Prioritization Tools
- Shared Genomic Segments
- Genomic Analysis
- Return of Genetic Results