The characterization of twenty sequenced human genomes.
Abstract
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.
Type
Journal articleSubject
Base SequenceCase-Control Studies
DNA Copy Number Variations
Databases, Genetic
Exons
Factor VIII
Gene Duplication
Gene Knockout Techniques
Genetics, Population
Genome, Human
Genotype
Hemophilia A
Humans
INDEL Mutation
Oligonucleotide Array Sequence Analysis
Open Reading Frames
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
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https://hdl.handle.net/10161/4478Published Version (Please cite this version)
10.1371/journal.pgen.1001111Publication Info
(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.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Elizabeth Cirulli
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.
David Benjamin Goldstein
Adjunct Professor in the Department of Molecular Genetics and Microbiology
Barton Ford Haynes
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
Anna Christina Need
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.
Abanish Singh
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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