Understanding Human DNA Sequence Variation
نویسندگان
چکیده
منابع مشابه
Understanding human DNA sequence variation.
Over the past century researchers have identified normal genetic variation and studied that variation in diverse human populations to determine the amounts and distributions of that variation. That information is being used to develop an understanding of the demographic histories of the different populations and the species as a whole, among other studies. With the advent of DNA-based markers i...
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Germ-line and somatic mtDNA mutations are hypothesized to act together to shape our history and our health. Germ-line mtDNA mutations, both ancient and recent, have been associated with a variety of degenerative diseases. Mildly to moderately deleterious germ-line mutations, like neutral polymorphisms, have become established in the distant past through genetic drift but now may predispose cert...
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The knowledge of the content of the individual human genomes has become a sine qua non for the understanding of the relationship between genotypic and phenotypic variability. The genome sequence and the ongoing functional annotation require both comparative genome analysis among different species and experimental validation. Extensive common and rare genomic variability exists that strongly inf...
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Mendelian Disorders For many cardiac or vascular conditions in which the initial presentation may be fatal, a strong genotype–phenotype correlation is of fundamental importance if genetic diagnosis or prognostication is ever to be useful. Even in classic monogenic disorders, in which large effect sizes are observed, genetic prediction is often confounded by reduced penetrance, wide variation in...
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OBJECTIVE To assess the influence of common mitochondrial DNA (mtDNA) sequence variation on multiple sclerosis (MS) risk in cases and controls part of an international consortium. METHODS We analyzed 115 high-quality mtDNA variants and common haplogroups from a previously published genome-wide association study among 7,391 cases from the International Multiple Sclerosis Genetics Consortium an...
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ژورنال
عنوان ژورنال: Journal of Heredity
سال: 2004
ISSN: 0022-1503,1465-7333
DOI: 10.1093/jhered/esh060