Donald F. Conrad, Ph.D.

Assistant Professor
Pathology and Immunology

Human and Statistical Genetics Program
Computational and Systems Biology Program
Molecular Genetics and Genomics Program

  • 314-362-4379 

  • 8232

  • MRB - McKinley Research Building, Room 6213

  • don.conrad@WUSTL.EDU


  • human genetics, SNP genotypes, DNA capture arrays, sequencing data, epidemiology, chromosome structure

  • human genetics, SNP genotypes, DNA capture arrays, sequencing data, epidemiology, chromosome structure

Research Abstract:

1. Variation in human chromosome structure. We have played a leading role in mapping and
characterizing the functional impact of structural variants ("SVs": deletions, duplications, inversions, and more complex rearrangements) over the past 7 years. As the map of common SVs is growing more and more complete, we are now moving towards functional analysis of SV as a class (ie by describing their impact on global gene expression) as well as testing hypotheses regarding individual SVs that show striking evidence for being subject to adaptive evolution.

2. The causes of new mutation, and variation in mutation rate, both within and among individuals. Our work on mapping breakpoints of CNVs and rare aneuploidies has provided new insights to the formation of chromosome rearrangements. Most recently, we have developed novel statistical methods for identifying de novo point mutations from next-generation sequencing data, and used this to estimate germ line mutation rates from parent-offspring trios as part of the 1000 genomes project (paper in press as of June 2011). We would like to continue developing these tools to handle more complex forms of mutation and arbitrary pedigree structure.

3. Human reproduction. Reproduction is a natural biological system to approach from a genetics background - many open questions pertaining to the origins of mutation and the distribution of mutation frequencies will require an investigation of gametogenesis, fertilization, and pregnancy. The lab has a number of projects ongoing in this area covering topics such as the biology of spermatogenesis and the placenta. We are trying to facilitate genetic medicine through this work and are eager to collaborate with clinicians in this area.

Selected Publications:

Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Origins and functional impact of copy number variation in the human genome. Nature. 2010 Apr 1;464(7289):704-12. Epub 2009 Oct 7.

Craddock N, Hurles ME, Cardin N, Pearson RD, … ,Conrad DF, Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature. 2010 Apr 1; 464(7289):713-20.

Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L, Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet. 2010 May;42(5):385-91. Epub 2010 Apr 4.

The 1000 Genomes Project Consortium. A map of human genome variation from population scale resequencing. Nature. 2010 Oct 28;467(7319):1061-73.

Conrad DF, Keebler JE, Depristo MA, Lindsay SJ, Zhang Y, et al. Variation in genome-wide mutation rates within and between human families. Nat Genet. 2011 Jun 12; Epub.

Last Updated: 7/13/2012 3:48:29 PM

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