STRetch: detecting and discovering pathogenic short tandem repeat expansions
نویسندگان
چکیده
منابع مشابه
Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions.
Intrinsically disordered proteins and proteins with intrinsically disordered regions have been shown to be highly prevalent in disease. Furthermore, disease-causing expansions of the regions containing tandem amino acid repeats often push repetitive proteins towards formation of irreversible aggregates. In fact, in disease-relevant proteins, the increased repeat length often positively correlat...
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Due to the GC-rich, repetitive nature of C9orf72 hexanucleotide repeat expansions, PCR based detection methods are challenging. Several limitations of PCR have been reported and overcoming these could help to define the pathogenic range. There is also a need to develop improved repeat-primed PCR assays which allow detection even in the presence of genomic variation around the repeat region. We ...
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The advances of high-throughput sequencing offer an unprecedented opportunity to study genetic variation. This is challenged by the difficulty of resolving variant calls in repetitive DNA regions. We present a Bayesian method to estimate repeat-length variation from paired-end sequence read data. The method makes variant calls based on deviations in sequence fragment sizes, allowing the analysi...
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In the present study, genotyping of six short tandem repeat (STR) loci including CSF1PO, D16S539, F13A01, F13B, LPL and HPRTB was performed on genomic DNA from 127 unrelated individuals from the Iranian province of Isfahan. The results indicated that the allele and genotype distributions were in accordance with Hardy-Weinberg expectations. The observed heterozygosity (Ho), expected heterozygosi...
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Estimation of short tandem repeat (STR) multilocus genotype frequencies for the identification of individuals and estimation of allele frequencies for parentage assignment both depend on (a) testing a lot of loci, (b) high levels of polymorphism at each locus tested, and (c) independence among alleles. Independence is critical, because the estimation of multilocus genotype and gamete frequencie...
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ژورنال
عنوان ژورنال: Genome Biology
سال: 2018
ISSN: 1474-760X
DOI: 10.1186/s13059-018-1505-2