The characterization of twenty sequenced human genomes.
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We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals with severe hemophilia A and ten "control" genomes. We summarize the number of genetic variants emerging from a study of this magnitude, and provide a proof of concept for the identification of rare and highly-penetrant functional variants by confirming that the cause of hemophilia A is easily recognizable in this data set. We also show that the number of novel single nucleotide variants (SNVs) discovered per genome seems to stabilize at about 144,000 new variants per genome, after the first 15 individuals have been sequenced. Finally, we find that, on average, each genome carries 165 homozygous protein-truncating or stop loss variants in genes representing a diverse set of pathways.
DNA Copy Number Variations
Gene Knockout Techniques
Oligonucleotide Array Sequence Analysis
Open Reading Frames
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
Published Version (Please cite this version)10.1371/journal.pgen.1001111
Publication InfoPelak, Kimberly; Shianna, Kevin V; Ge, Dongliang; Maia, Jessica M; Zhu, Mingfu; Smith, Jason P; ... Goldstein, David B (2010). The characterization of twenty sequenced human genomes. PLoS Genet, 6(9). pp. e1001111. 10.1371/journal.pgen.1001111. Retrieved from https://hdl.handle.net/10161/4478.
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Adjunct Assistant Prof in the Department of Molecular Genetics and Microbiology
Liz is interested in the genetics underlying normal variation in healthy humans, with a focus on traits relevant to disease and involving neuronal function, for example cognitive performance, face recognition, and time perception. She is also interested in applying genome sequencing for disease gene discovery and in studying people with extreme traits, such as those living to at least 100 years of age.
Adjunct Professor in the Department of Molecular Genetics and Microbiology
Frederic M. Hanes Distinguished Professor of Medicine
The Haynes lab is studying host innate and adaptive immune responses to the human immunodeficiency virus (HIV), tuberculosis (TB), and influenza in order to find the enabling technology to make preventive vaccines against these three major infectious diseases. Mucosal Immune Responses in Acute HIV Infection The Haynes lab is working to determine why broadly neutralizing antibodies are rarely made in acute HIV infection (AHI), currently a major obstacle in the de
Adjunct Assistant Professor in the Department of Medicine
This author no longer has a Scholars@Duke profile, so the information shown here reflects their Duke status at the time this item was deposited.
Assistant Professor in Psychiatry and Behavioral Sciences
With a unique skill set resulting from outstanding training, my sole aim was to help improve human health through cutting-edge translational research. Specifically, I have been interested in illuminating the mechanisms responsible for the causes and progression of the leading public health conditions, which may help with the development and enhancement of precision medicine. As part of this endeavor, I also became interested in studying the measurement of biobehavioral risk factors and
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