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- W2977382078 endingPage "1577" @default.
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- W2977382078 abstract "Germline mutation rates in humans have been estimated for a variety of mutation types, including single-nucleotide and large structural variants. Here, we directly measure the germline retrotransposition rate for the three active retrotransposon elements: L1, Alu , and SVA. We used three tools for calling mobile element insertions (MEIs) (MELT, RUFUS, and TranSurVeyor) on blood-derived whole-genome sequence (WGS) data from 599 CEPH individuals, comprising 33 three-generation pedigrees. We identified 26 de novo MEIs in 437 births. The retrotransposition rate estimates for Alu elements, one in 40 births, is roughly half the rate estimated using phylogenetic analyses, a difference in magnitude similar to that observed for single-nucleotide variants. The L1 retrotransposition rate is one in 63 births and is within range of previous estimates (1:20–1:200 births). The SVA retrotransposition rate, one in 63 births, is much higher than the previous estimate of one in 900 births. Our large, three-generation pedigrees allowed us to assess parent-of-origin effects and the timing of insertion events in either gametogenesis or early embryonic development. We find a statistically significant paternal bias in Alu retrotransposition. Our study represents the first in-depth analysis of the rate and dynamics of human retrotransposition from WGS data in three-generation human pedigrees." @default.
- W2977382078 created "2019-10-10" @default.
- W2977382078 creator A5012916005 @default.
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- W2977382078 creator A5087469756 @default.
- W2977382078 creator A5088414680 @default.
- W2977382078 creator A5090698697 @default.
- W2977382078 date "2019-10-01" @default.
- W2977382078 modified "2023-10-17" @default.
- W2977382078 title "Pedigree-based estimation of human mobile element retrotransposition rates" @default.
- W2977382078 cites W1482190741 @default.
- W2977382078 cites W1569932862 @default.
- W2977382078 cites W1588316525 @default.
- W2977382078 cites W1944771638 @default.
- W2977382078 cites W1969989752 @default.
- W2977382078 cites W1974518541 @default.
- W2977382078 cites W1975464415 @default.
- W2977382078 cites W1999887312 @default.
- W2977382078 cites W2007613930 @default.
- W2977382078 cites W2009270176 @default.
- W2977382078 cites W2012300428 @default.
- W2977382078 cites W2014439672 @default.
- W2977382078 cites W2019469673 @default.
- W2977382078 cites W2021341670 @default.
- W2977382078 cites W2029983700 @default.
- W2977382078 cites W2040741651 @default.
- W2977382078 cites W2047657819 @default.
- W2977382078 cites W2051541780 @default.
- W2977382078 cites W2054745526 @default.
- W2977382078 cites W2054890113 @default.
- W2977382078 cites W2058401000 @default.
- W2977382078 cites W2059173951 @default.
- W2977382078 cites W2059803300 @default.
- W2977382078 cites W2070531171 @default.
- W2977382078 cites W2070807615 @default.
- W2977382078 cites W2074089003 @default.
- W2977382078 cites W2091279754 @default.
- W2977382078 cites W2101763003 @default.
- W2977382078 cites W2102619694 @default.
- W2977382078 cites W2103441770 @default.
- W2977382078 cites W2106021702 @default.
- W2977382078 cites W2107940314 @default.
- W2977382078 cites W2108234281 @default.
- W2977382078 cites W2109394590 @default.
- W2977382078 cites W2109533720 @default.
- W2977382078 cites W2114442654 @default.
- W2977382078 cites W2117131162 @default.
- W2977382078 cites W2118155162 @default.
- W2977382078 cites W2119279196 @default.
- W2977382078 cites W2120762351 @default.
- W2977382078 cites W2122792460 @default.
- W2977382078 cites W2123077198 @default.
- W2977382078 cites W2123883764 @default.
- W2977382078 cites W2124957657 @default.
- W2977382078 cites W2127625120 @default.
- W2977382078 cites W2128016314 @default.
- W2977382078 cites W2128038001 @default.
- W2977382078 cites W2129398737 @default.
- W2977382078 cites W2132378736 @default.
- W2977382078 cites W2134143935 @default.
- W2977382078 cites W2136145671 @default.
- W2977382078 cites W2137036621 @default.
- W2977382078 cites W2143047565 @default.
- W2977382078 cites W2148219730 @default.
- W2977382078 cites W2154422767 @default.
- W2977382078 cites W2162146849 @default.
- W2977382078 cites W2166265186 @default.
- W2977382078 cites W2166535449 @default.
- W2977382078 cites W2166880412 @default.
- W2977382078 cites W2168133698 @default.
- W2977382078 cites W2168142506 @default.
- W2977382078 cites W2171777347 @default.
- W2977382078 cites W2198526037 @default.
- W2977382078 cites W2201808132 @default.
- W2977382078 cites W2206844597 @default.
- W2977382078 cites W2275033707 @default.
- W2977382078 cites W2280860630 @default.
- W2977382078 cites W2305132501 @default.
- W2977382078 cites W2347011735 @default.
- W2977382078 cites W2378183100 @default.
- W2977382078 cites W2513006861 @default.
- W2977382078 cites W2516620605 @default.
- W2977382078 cites W2522993044 @default.
- W2977382078 cites W2533759132 @default.
- W2977382078 cites W2586994065 @default.
- W2977382078 cites W2607986818 @default.
- W2977382078 cites W2609153336 @default.
- W2977382078 cites W2612670250 @default.
- W2977382078 cites W2623862783 @default.
- W2977382078 cites W2659853895 @default.
- W2977382078 cites W2737372261 @default.
- W2977382078 cites W2739969614 @default.
- W2977382078 cites W2750782486 @default.
- W2977382078 cites W2756712855 @default.