Nucleic acid tests for clinical translation
Nucleic acids, including deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), are
natural biopolymers composed of nucleotides that store, transmit, and express genetic …
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 …
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
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 …
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 …
multi-purpose genetic markers exploited in plant functional genomics. However, the …
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] 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 …
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
The availability of well-assembled genome sequences and reduced sequencing costs have
enabled the resequencing of many additional accessions in several crops, thus facilitating …
enabled the resequencing of many additional accessions in several crops, thus facilitating …
STRetch: detecting and discovering pathogenic short tandem repeat expansions
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 …
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 …
These can present with overlapping clinical phenotypes, making molecular diagnosis …
DeepRepeat: direct quantification of short tandem repeats on signal data from nanopore sequencing
Despite recent improvements in basecalling accuracy, nanopore sequencing still has higher
error rates on short-tandem repeats (STRs). Instead of using basecalled reads, we …
error rates on short-tandem repeats (STRs). Instead of using basecalled reads, we …