Alu Insertions and Ethnic Composition in a Brazilian Population Sample
نویسندگان
چکیده
منابع مشابه
Human population genetic structure and diversity inferred from polymorphic L1(LINE-1) and Alu insertions.
BACKGROUND/AIMS The L1 retrotransposable element family is the most successful self-replicating genomic parasite of the human genome. L1 elements drive replication of Alu elements, and both have had far-reaching impacts on the human genome. We use L1 and Alu insertion polymorphisms to analyze human population structure. METHODS We genotyped 75 recent, polymorphic L1 insertions in 317 individu...
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Alu elements are transposable elements that have reached over one million copies in the human genome. Some Alu elements inserted in the genome so recently that they are still polymorphic for insertion presence or absence in human populations. Recently, there has been an increasing interest in using Alu variation for studies of human population genetic structure and inference of individual geogr...
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High-throughput sequencing technologies have allowed for the cataloguing of variation in personal human genomes. In this manuscript, we present alu-detect, a tool that combines read-pair and split-read information to detect novel Alus and their precise breakpoints directly from either whole-genome or whole-exome sequencing data while also identifying insertions directly in the vicinity of exist...
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متن کاملPolymorphic human specific Alu insertions as markers for human identification.
Alu sequences represent the largest family of short interspersed repetitive elements (SINEs) in humans with 500 000 copies per genome. Recently, one Alu subfamily was found to be human specific (HS). We originally described the use of polymorphis HS Alu insertions as a tool in population studies and recently as tools in DNA fingerprinting and forensic analysis. In this report, we will use this ...
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ژورنال
عنوان ژورنال: INTERNATIONAL JOURNAL OF HUMAN GENETICS
سال: 2001
ISSN: 0972-3757,2456-6330
DOI: 10.31901/24566330.2001/01.04.03