New images for the department retreat 2015 up in park city have been posted online.



GQT: software for querying millions of genomes.

The paper is Efficient genotype compression and analysis of large genetic-variation data sets


Link to paper is here.


Postdoctoral position – Chow Laboratory – University of Utah

The Chow Lab in the Department of Human Genetics at the University of Utah in Salt Lake City is recruiting postdoctoral research associates.


Please follow the link for more information

Two scientists from the University of Utah have been named to the prestigious National Academy of Medicine: geneticist Mario R. Capecchi and Vivian S. Lee, dean of the medical school.

Capecchi and Lee are among 70 new U.S. members and 10 non-U.S. members elected in the class of 2015, the academy announced this week.

They join 21 others associated with the U. who are members of the academy.

U. President David W. Pershing, said both have made “significant impacts on the lives of people everywhere,” according to a news release.

link to article here.

Science is the pursuit of truth. What could be more clear-cut than that? Yet for today’s scientists, that search can be a winding, unsettling path through a constantly evolving landscape. Funding constraints, new trends and a growing emphasis on translation has investigators worrying there may be no place for them when the ground stops shaking. With their livelihoods hanging in the balance, they’re figuring out how to be adaptable and competitive, how to be open to eclectic partners and funding streams, and how to look at threats as opportunities to take science further than they imagined…


Article link here

A global reference for human genetic variation

The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping.

Link: Nature

An integrated map of structural variation in 2,504 human genomes

Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which we constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations.

Link: Nature

PHILADELPHIA — Mario R. Capecchi, PhD, will be honored for his tremendous scientific contributions, which have had a profound impact on the understanding of cancer, including his groundbreaking work in the development of gene targeting technology, with the 12th annual American Association for Cancer Research (AACR) Award for Lifetime Achievement in Cancer Research at the AACR Annual Meeting 2015, to be held in Philadelphia, April 18-22.


Please visit the article at this link.

Please join me in congratulating Gab Kardon and colleagues on their beautiful work on diaphragm development published last week in Nature Genetics and highighted today in the New York Times by Carl Zimmer:

New York Times

Nature Genetics


Matt Barber and Dr. Nels Elde got a paper published in Science, called

“Escape from bacterial iron piracy through rapid evolution of transferrin”


visit the link for the article.

NYTimes Article featuring research from the article.