[HTML][HTML] Short tandem repeats in human exons: a target for disease mutations
BE Madsen, P Villesen, C Wiuf - BMC genomics, 2008 - Springer
… disease risk. Here we focus on a class of very short tandem repeats and their contribution to
disease … likely targets for disease causing mutations by showing that disease-related genes …
disease … likely targets for disease causing mutations by showing that disease-related genes …
Simple tandem DNA repeats and human genetic disease.
GR Sutherland, RI Richards - Proceedings of the National …, 1995 - National Acad Sciences
… The first genetic disease reported in association with the dynamic mutation of an STR
was … This disease is due to the dynamic mutation of a CCG trinucleotide repeat in the 5'-…
was … This disease is due to the dynamic mutation of a CCG trinucleotide repeat in the 5'-…
A brief review of short tandem repeat mutation
H Fan, JY Chu - Genomics, Proteomics and Bioinformatics, 2007 - academic.oup.com
… with human neurodegenerative diseases. In order to deepen our knowledge of these
diseases and broaden STR application, it is essential to understand the STR mutation process in …
diseases and broaden STR application, it is essential to understand the STR mutation process in …
Mutation of human short tandem repeats
JL Weber, C Wong - Human molecular genetics, 1993 - academic.oup.com
… Using assumptions for the sizes and numbers of generations in the Finnish population since
the original disease mutation, STR mutation rates ranging from 3 X 10~4 to 4 X 10~3 were …
the original disease mutation, STR mutation rates ranging from 3 X 10~4 to 4 X 10~3 were …
[HTML][HTML] Profiling of short-tandem-repeat disease alleles in 12,632 human whole genomes
… Short tandem repeats are often polymorphic as a result of strand slippage during DNA
replication and are a common source of rare genetic diseases. … Additionally, STR mutations are …
replication and are a common source of rare genetic diseases. … Additionally, STR mutations are …
A genomic view of short tandem repeats
M Gymrek - Current opinion in genetics & development, 2017 - Elsevier
… and may contribute more de novo mutations than any other variant … to Mendelian diseases,
complex traits, and cancer. … de novo mutation based on predictions of the underlying mutation …
complex traits, and cancer. … de novo mutation based on predictions of the underlying mutation …
[HTML][HTML] An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
SR Chintalaphani, SS Pineda, IW Deveson… - Acta Neuropathologica …, 2021 - Springer
… Short tandem repeat (STR) expansion disorders are an important cause of human neurological
disease… by other mutations such as missense and frameshift mutations. Interestingly, …
disease… by other mutations such as missense and frameshift mutations. Interestingly, …
Interpreting short tandem repeat variations in humans using mutational constraint
… reads and does not accurately describe large expansion mutations observed in conditions
such as Huntington's disease or fragile X syndrome. We show that our constraint metric can …
such as Huntington's disease or fragile X syndrome. We show that our constraint metric can …
[HTML][HTML] The mutational dynamics of short tandem repeats in large, multigenerational families
… Improving our understanding of these mutations would increase our knowledge of the … loci
that contribute to disease. To estimate the genome-wide pattern of mutations at STR loci, we …
that contribute to disease. To estimate the genome-wide pattern of mutations at STR loci, we …
Deletion and insertion mutations in short tandem repeats in the coding regions of human genes
A Darvasi, B Kerem - European Journal of Human Genetics, 1995 - nature.com
… mutations provides an opportunity to investigate the contribution of short tandem repeats to
the naturally occurring mutations … surrounding 625 disease-causing mutations in the coding …
the naturally occurring mutations … surrounding 625 disease-causing mutations in the coding …
相关搜索
- short tandem repeats
- short tandem target for disease mutations
- short tandem repetitive motif
- high rate short tandem repeat loci
- tandem dna repeats human genetic disease
- short read sequencing data tandem repeats
- dynamic mutation human disease
- human exons target for disease mutations
- mutation rate tandem repeat
- disease alleles tandem repeat