Genetic Variation in an Individual Human Exome
نویسندگان
چکیده
منابع مشابه
Genetic Variation in an Individual Human Exome
There is much interest in characterizing the variation in a human individual, because this may elucidate what contributes significantly to a person's phenotype, thereby enabling personalized genomics. We focus here on the variants in a person's 'exome,' which is the set of exons in a genome, because the exome is believed to harbor much of the functional variation. We provide an analysis of the ...
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Recent technological advances have allowed us to study individual genomes at a base-pair resolution and have demonstrated that the average exome harbors more than 15,000 genetic variants. However, our ability to understand the biological significance of the identified variants and to connect these observed variants with phenotypes is limited. The first step in this process is to identify geneti...
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ژورنال
عنوان ژورنال: PLoS Genetics
سال: 2008
ISSN: 1553-7404
DOI: 10.1371/journal.pgen.1000160