Registration is available at
All presentations are located in INSCC Auditorium (Room 110)
- Introduction to R: October 15th, 1-3 pm
- National and Regional Compute Resources: October 17th, 1-2 pm
- Intro to Parallel Computing: October 22nd, 1-2 pm
- Intro to Programming with MPI: October 24th, 1-2 pm
Posted October 4th, 2019
Posted September 26th, 2019
- (COMPLETED) October 8thstarting at 7:30
Compute and interactive nodes onlonepeak, kingspeak, tangent, ash, and redwood. Includes the frisco, atmos and meteo nodes
- (COMPLETED) September 25th starting at 7:30
Compute and interactive nodes on ember and notchpeak
Who's who? Detecting and resolving sample anomalies in human DNA sequencing studies with Peddy.
By Brent S. Pedersen & Aaron R. Quinlan, University of Utah
The potential for genetic discovery in human DNA sequencing studies is greatly diminished if DNA samples from the cohort are mislabelled, swapped, contaminated, or include unintended individuals. The potential for such errors is significant since DNA samples are often manipulated by several protocols, labs or scientists in the process of sequencing. We have developed Peddy to identify and facilitate the remediation of such errors via interactive visualizations and reports comparing the stated sex, relatedness, and ancestry to what is inferred from each individual's genotypes. Peddy predicts a sample's ancestry using a machine learning model trained on individuals of diverse ancestries from the 1000 Genomes Project reference panel. Peddy's speed, text reports and web interface facilitate both automated and visual detection of sample swaps, poor sequencing quality and other indicators of sample problems that, were they left undetected, would inhibit discovery. Peddy is used as part of our Base2 Genomics system for analyzing whole-genome sequencing data.
Available at https://github.com/brentp/peddy.