Nucleic acid tests for clinical translation

M Li, F Yin, L Song, X Mao, F Li, C Fan, X Zuo… - Chemical …, 2021 - ACS Publications
Nucleic acids, including deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), are
natural biopolymers composed of nucleotides that store, transmit, and express genetic …

Tandem repeats mediating genetic plasticity in health and disease

AJ Hannan - Nature Reviews Genetics, 2018 - nature.com
Accumulating evidence suggests that many classes of DNA repeats exhibit attributes that
distinguish them from other genetic variants, including the fact that they are more liable to …

Challenges in analysis and interpretation of microsatellite data for population genetic studies

AI Putman, I Carbone - Ecology and evolution, 2014 - Wiley Online Library
Advancing technologies have facilitated the ever‐widening application of genetic markers
such as microsatellites into new systems and research questions in biology. In light of the …

Mining and development of novel SSR markers using next generation sequencing (NGS) data in plants

S Taheri, T Lee Abdullah, MR Yusop, MM Hanafi… - Molecules, 2018 - mdpi.com
Microsatellites, or simple sequence repeats (SSRs), are one of the most informative and
multi-purpose genetic markers exploited in plant functional genomics. However, the …

Profiling of short-tandem-repeat disease alleles in 12,632 human whole genomes

H Tang, EF Kirkness, C Lippert, WH Biggs… - The American Journal of …, 2017 - cell.com
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 …

[HTML][HTML] Diagnostics based on nucleic acid sequence variant profiling: PCR, hybridization, and NGS approaches

D Khodakov, C Wang, DY Zhang - Advanced drug delivery reviews, 2016 - Elsevier
Nucleic acid sequence variations have been implicated in many diseases, and reliable
detection and quantitation of DNA/RNA biomarkers can inform effective therapeutic action …

Genome-wide simple sequence repeats (SSR) markers discovered from whole-genome sequence comparisons of multiple spinach accessions

G Bhattarai, A Shi, DR Kandel, N Solís-Gracia… - Scientific reports, 2021 - nature.com
The availability of well-assembled genome sequences and reduced sequencing costs have
enabled the resequencing of many additional accessions in several crops, thus facilitating …

STRetch: detecting and discovering pathogenic short tandem repeat expansions

H Dashnow, M Lek, B Phipson, A Halman, S Sadedin… - Genome biology, 2018 - Springer
Short tandem repeat (STR) expansions have been identified as the causal DNA mutation in
dozens of Mendelian diseases. Most existing tools for detecting STR variation with short …

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 …

DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing

L Fang, Q Liu, AM Monteys, P Gonzalez-Alegre… - Genome biology, 2022 - Springer
Despite recent improvements in basecalling accuracy, nanopore sequencing still has higher
error rates on short-tandem repeats (STRs). Instead of using basecalled reads, we …