Variable tandem repeats accelerate evolution of coding and regulatory sequences
R Gemayel, MD Vinces, M Legendre… - Annual review of …, 2010 - annualreviews.org
Genotype-to-phenotype mapping commonly focuses on two major classes of mutations:
single nucleotide polymorphisms (SNPs) and copy number variation (CNV). Here, we …
single nucleotide polymorphisms (SNPs) and copy number variation (CNV). Here, we …
Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats
Structural variants (SVs) and short tandem repeats (STRs) are important sources of genetic
diversity but are not routinely analyzed in genetic studies because they are difficult to …
diversity but are not routinely analyzed in genetic studies because they are difficult to …
TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes
SY Anvar, KJ van der Gaag, JWF van der Heijden… - …, 2014 - academic.oup.com
Motivation: Advances in sequencing technologies and computational algorithms have
enabled the study of genomic variants to dissect their functional consequence. Despite this …
enabled the study of genomic variants to dissect their functional consequence. Despite this …
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci
Expansions of short tandem repeats (STRs) cause many rare diseases. Expansion detection
is challenging with short-read DNA sequencing data since supporting reads are often …
is challenging with short-read DNA sequencing data since supporting reads are often …
[HTML][HTML] TRPing up the genome: Tandem repeat polymorphisms as dynamic sources of genetic variability in health and disease
AJ Hannan - Discovery medicine, 2010 - discoverymedicine.com
Repetitive DNA sequences constitute a large fraction of the genomes of humans and other
animal species. Tandem repeats are a major class of repetitive DNA and the extent of their …
animal species. Tandem repeats are a major class of repetitive DNA and the extent of their …
Properties of structural variants and short tandem repeats associated with gene expression and complex traits
Structural variants (SVs) and short tandem repeats (STRs) comprise a broad group of
diverse DNA variants which vastly differ in their sizes and distributions across the genome …
diverse DNA variants which vastly differ in their sizes and distributions across the genome …
Mutation analysis of 24 short tandem repeats in Chinese Han population
D Lu, Q Liu, W Wu, H Zhao - International Journal of Legal Medicine, 2012 - Springer
Germline mutations of 24 short tandem repeat (STR) loci (TPOX, D3S1358, FGA, D5S818,
CSF1PO, D7S820, D8S1179, TH01, vWA, D13S317, Penta E, D16S539, D18S51, Penta D …
CSF1PO, D7S820, D8S1179, TH01, vWA, D13S317, Penta E, D16S539, D18S51, Penta D …
lobSTR: a short tandem repeat profiler for personal genomes
Short tandem repeats (STRs) have a wide range of applications, including medical genetics,
forensics, and genetic genealogy. High-throughput sequencing (HTS) has the potential to …
forensics, and genetic genealogy. High-throughput sequencing (HTS) has the potential to …
Characterization and visualization of tandem repeats at genome scale
Tandem repeat (TR) variation is associated with gene expression changes and numerous
rare monogenic diseases. Although long-read sequencing provides accurate full-length …
rare monogenic diseases. Although long-read sequencing provides accurate full-length …
Variable number tandem repeats mediate the expression of proximal genes
M Bakhtiari, J Park, YC Ding, S Shleizer-Burko… - Nature …, 2021 - nature.com
Variable number tandem repeats (VNTRs) account for significant genetic variation in many
organisms. In humans, VNTRs have been implicated in both Mendelian and complex …
organisms. In humans, VNTRs have been implicated in both Mendelian and complex …