Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
نویسندگان
چکیده
منابع مشابه
Systematic Profiling of Short Tandem Repeats in the Cattle Genome
Short tandem repeats (STRs), or microsatellites, are genetic variants with repetitive 2–6 base pair motifs in many mammalian genomes. Using high-throughput sequencing and experimental validations, we systematically profiled STRs in five Holsteins. We identified a total of 60,106 microsatellites and generated the first high-resolution STR map, representing a substantial pool of polymorphism in d...
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The majority of studies employing short tandem repeats (STRs) require investigation of several of these genetic markers. As such, we demonstrate the feasibility of the trinucleotide threading (TnT) approach for scalable analysis of STRs. The TnT method represents a parallel amplification alternative that addresses the obstacles associated with multiplex PCR. In this study, analysis of the STR f...
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A total of 20,000 parent-offspring transfers of alleles were examined through the genotyping within 40 CEPH reference families of 28 short tandem repeat polymorphisms (STRPs) located on chromosome 19. Forty-seven initial mutation events were detected in the STRPs using DNA from transformed lymphoblastoid cell lines, but less than half (39%) could be verified using DNA from untransformed cells. ...
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Y-short tandem repeats (STRs) are located in the nonrecombining part of the Y-chromosome. Its genetic characteristics are helpful to paternity testing. The male lineage can be pursued over several generations. Since an overwhelming majority of rape or sexual assault cases involve male suspects, these markers proved to be very useful with mixed stains. Routine casework performed in our laborator...
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We study the problem of approximate non-tandem repeat extraction. Given a long subject string S of length N over a finite alphabet Sigma and a threshold D, we would like to find all short substrings of S of length P that repeat with at most D differences, i.e., insertions, deletions, and mismatches. We give a careful theoretical characterization of the set of seeds (i.e., some maximal exact rep...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2021
ISSN: 1098-3600,1530-0366
DOI: 10.1038/s41436-021-01174-1