[HTML][HTML] Genome-wide detection of short tandem repeat expansions by long-read sequencing
Background Short tandem repeat (STR), or “microsatellite”, is a tract of DNA in which a
specific motif (typically< 10 base pairs) is repeated multiple times. STRs are abundant …
specific motif (typically< 10 base pairs) is repeated multiple times. STRs are abundant …
[HTML][HTML] Recent advances in the detection of repeat expansions with short-read next-generation sequencing
M Bahlo, MF Bennett, P Degorski, RM Tankard… - …, 2018 - ncbi.nlm.nih.gov
Short tandem repeats (STRs), also known as microsatellites, are commonly defined as
consisting of tandemly repeated nucleotide motifs of 2–6 base pairs in length. STRs appear …
consisting of tandemly repeated nucleotide motifs of 2–6 base pairs in length. STRs appear …
[HTML][HTML] Genome-wide analysis of microsatellite repeats in humans: their abundance and density in specific genomic regions
S Subramanian, RK Mishra, L Singh - Genome biology, 2003 - Springer
Abstract Background Simple sequence repeats (SSRs) are found in most organisms, and
occupy about 3% of the human genome. Although it is becoming clear that such repeats are …
occupy about 3% of the human genome. Although it is becoming clear that such repeats are …
[HTML][HTML] Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment
Bioinformatic methods for detecting short tandem repeat expansions in short-read
sequencing have identified new repeat expansions in humans, but require alignment …
sequencing have identified new repeat expansions in humans, but require alignment …
[HTML][HTML] Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences
Tandem repeat (TR) expansion is the underlying cause of over 40 neurological disorders.
Long-read sequencing offers an exciting avenue over conventional technologies for …
Long-read sequencing offers an exciting avenue over conventional technologies for …
[HTML][HTML] Detecting expansions of tandem repeats in cohorts sequenced with short-read sequencing data
RM Tankard, MF Bennett, P Degorski… - The American Journal of …, 2018 - cell.com
Repeat expansions cause more than 30 inherited disorders, predominantly neurogenetic.
These can present with overlapping clinical phenotypes, making molecular diagnosis …
These can present with overlapping clinical phenotypes, making molecular diagnosis …
[HTML][HTML] Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing
Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a
number of genetic diseases. Sanger sequencing and next-generation short-read …
number of genetic diseases. Sanger sequencing and next-generation short-read …
[HTML][HTML] Profiling of short-tandem-repeat disease alleles in 12,632 human whole genomes
Short tandem repeats (STRs) are hyper-mutable sequences in the human genome. They are
often used in forensics and population genetics and are also the underlying cause of many …
often used in forensics and population genetics and are also the underlying cause of many …
[HTML][HTML] Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions
IS Rajan-Babu, JJ Peng, R Chiu… - Genome medicine, 2021 - Springer
Background Screening for short tandem repeat (STR) expansions in next-generation
sequencing data can enable diagnosis, optimal clinical management/treatment, and …
sequencing data can enable diagnosis, optimal clinical management/treatment, and …
Profiling the genome-wide landscape of tandem repeat expansions
N Mousavi, S Shleizer-Burko, R Yanicky… - Nucleic acids …, 2019 - academic.oup.com
Tandem repeat (TR) expansions have been implicated in dozens of genetic diseases,
including Huntington's Disease, Fragile X Syndrome, and hereditary ataxias. Furthermore …
including Huntington's Disease, Fragile X Syndrome, and hereditary ataxias. Furthermore …