Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2
نویسندگان
چکیده
منابع مشابه
Why do human diversity levels vary at a megabase scale?
Levels of diversity vary across the human genome. This variation is caused by two forces: differences in mutation rates and the differential impact of natural selection. Pertinent to the question of the relative importance of these two forces is the observation that both diversity within species and interspecies divergence increase with recombination rates. This suggests that mutation and recom...
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There is growing appreciation that the human genome contains significant numbers of structural rearrangements, such as insertions, deletions, inversions, and large tandem repeats. Recent studies have defined approximately 5% of the human genome as structurally variant in the normal population, involving more than 800 independent genes. We present a detailed review of the various structural rear...
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Rationale. The last three years have brought considerable progress in understanding the nature and patterns of single nucleotide polymorphism within the human species. Of the estimated 10-15 million common SNPs, a large fraction have already been discovered and 3.8 million SNPs converted to genotyping assays, providing the community with a framework to investigate associations between common SN...
متن کاملStructural variation in the human genome.
Genomic structural variation is generally defined as deletions, insertions, duplications, inversions, translocations or copy number variation (CNV) in large DNA segments (>1 kb). The structural variation in an individual genome includes thousands of discrete regions, spans millions of base pairs, and encompasses numerous entire genes and their regulatory regions. This results in missing or chan...
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Sixty-six haplotypes at a locus containing a simple dinucleotide (CA)n microsatellite repeat were isolated by PCR-single-strand conformational polymorphism from populations of the horseshoe crab Limulus polyphemus. These haplotypes were sequenced to assess nucleotide variation directly. Thirty-four distinct sequences (alleles) were identified in a region 570 bp long that included the microsatel...
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ژورنال
عنوان ژورنال: Cell
سال: 2019
ISSN: 0092-8674
DOI: 10.1016/j.cell.2019.01.045