Mutation rate estimates for 110 Y-chromosome STRs combining population and father–son pair data

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Mutation Rate Estimates for 110 Y-chromosome Strs Combining Population and 1 Father-son Pair Data 2 3 Running Title: Mutation Rate Estimates for Y-strs 21

22 23 Y-chromosome microsatellites (Y-STRs) are typically used for kinship analysis and 24 forensic identification as well as for inferences on population history and evolution. All 25 applications would greatly benefit from reliable locus-specific mutation rates, to improve 26 forensic probability calculations and interpretations of diversity data. However, estimates of 27 mutation rate from f...

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Y Chromosome-Specific STRs

The Y chromosome is one of the smallest human chromosomes with an average size of 60 million base pairs (Mb). Between X and Y chromosomes, exchange is limited to small pseudoautosomal regions (PAR) of the X-Y pair (see Figure 1). During male meiosis, recombination only takes place at the most distal short arm (PAR 1) and at the tip of the Y chromosome long arm (PAR 2). For most of its length (t...

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Population Database and Mutation Study for Short Tandem Repeat Loci on Y-Chromosome (Y-STRs) in Japanese Populations.

A database for 14 short tandem repeat loci on Y-chromosome (Y-STRs) (DYS393, DYS19, DYS391, DYS437, DYS435, DYS439, DYS389II, DYS438, DYS436, DYS390, Y-GATA-H4, DYS385, DYS460, and DYS392) was constructed from 207 Honshu-Japanese (main island of Japan, Nagoya City) and 87 Okinawa-Japanese (southernmost islands of Japan) male DNA specimens. The samples were analyzed for 14 Y-STRs using two multi...

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Population-Scale Sequencing Data Enables Precise Estimates of Y-STR Mutation Rates

1 New York Genome Center, New York, NY 10013, USA 2 Computational and Systems Biology Program, MIT, Cambridge, MA 02139, USA 3 Whitehead Institute for Biomedical Research, 9 Cambridge Center, Cambridge, MA 02139, USA 4 Harvard-MIT Division of Health Sciences and Technology, MIT, Cambridge, MA 02139, USA 5 Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge,...

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Population-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation Rates.

Short tandem repeats (STRs) are mutation-prone loci that span nearly 1% of the human genome. Previous studies have estimated the mutation rates of highly polymorphic STRs by using capillary electrophoresis and pedigree-based designs. Although this work has provided insights into the mutational dynamics of highly mutable STRs, the mutation rates of most others remain unknown. Here, we harnessed ...

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ژورنال

عنوان ژورنال: European Journal of Human Genetics

سال: 2010

ISSN: 1018-4813,1476-5438

DOI: 10.1038/ejhg.2010.154