Profiling of short-tandem-repeat disease alleles in 12,632 human whole genomes
… repeat sizes for genetic loci, and we used this software to infer repeat sizes for 30 known
disease … We identified 138 individuals with risk alleles at 15 STR disease loci. We validated a …
disease … We identified 138 individuals with risk alleles at 15 STR disease loci. We validated a …
Simple tandem DNA repeats and human genetic disease.
GR Sutherland, RI Richards - Proceedings of the National …, 1995 - National Acad Sciences
… tandem repeats, and these are widely dispersed and highly polymorphic. Members of one
group of the simple tandem repeats, the trinucleotide repeats, … In Huntington disease alleles of …
group of the simple tandem repeats, the trinucleotide repeats, … In Huntington disease alleles of …
The biological effects of simple tandem repeats: lessons from the repeat expansion diseases
K Usdin - Genome research, 2008 - genome.cshlp.org
… repeat expansion diseases are a group of human genetic disorders caused by long and highly
polymorphic tandem repeats. … on normal alleles are within 350 bp of the CGG-repeat tract. …
polymorphic tandem repeats. … on normal alleles are within 350 bp of the CGG-repeat tract. …
Tandem repeats mediating genetic plasticity in health and disease
AJ Hannan - Nature Reviews Genetics, 2018 - nature.com
… specific tandem repeat expansions can cause Huntington disease, … and other diseases; the
majority of these diseases are … smallest allele has n tandem repeats, then other alleles can …
majority of these diseases are … smallest allele has n tandem repeats, then other alleles can …
Short tandem repeats in human exons: a target for disease mutations
BE Madsen, P Villesen, C Wiuf - BMC genomics, 2008 - Springer
… ) in relatively long tandem repeats [15], but other types of length variations may … disease
risk. Here we focus on a class of very short tandem repeats and their contribution to disease risk. …
risk. Here we focus on a class of very short tandem repeats and their contribution to disease risk. …
A genomic view of short tandem repeats
M Gymrek - Current opinion in genetics & development, 2017 - Elsevier
… First, they provide a framework in which to interpret the relevance of specific STR alleles
observed in disease contexts. Population-specific per-locus allele frequencies serve as a …
observed in disease contexts. Population-specific per-locus allele frequencies serve as a …
Tandem repeat polymorphisms: modulators of disease susceptibility and candidates for 'missing heritability'
AJ Hannan - Trends in genetics, 2010 - cell.com
… , with a recent bioinformatics analysis suggesting that short tandem repeats occur more
frequently in disease-associated genes than those not known to be associated with disease [ …
frequently in disease-associated genes than those not known to be associated with disease [ …
A brief review of short tandem repeat mutation
H Fan, JY Chu - Genomics, Proteomics and Bioinformatics, 2007 - academic.oup.com
… new mutation produces a new allele and all mutations are equiprobable. Therefore, it can
involve any number of tandem repeats and always results in a new allele state not previously …
involve any number of tandem repeats and always results in a new allele state not previously …
Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads
… expansions within the top 10 out of 700,000 tandem repeats in whole genome sequencing
data. This may help to elucidate the many genetic diseases whose causes remain unknown. …
data. This may help to elucidate the many genetic diseases whose causes remain unknown. …
[HTML][HTML] Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
BPGH van der Sanden, J Corominas, M de Groot… - Genetics in …, 2021 - Elsevier
… normal allele size or indicated a pathogenic expansion allele, we also performed repeat-…
to make sure we did not miss a larger allele due to allelic dropout of normal PCR. RP-PCR for …
to make sure we did not miss a larger allele due to allelic dropout of normal PCR. RP-PCR for …
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- short tandem repeats
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- short read sequencing data tandem repeats
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- evolution of coding tandem repeats
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