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 …
Sequencing and characterizing short tandem repeats in the human genome
HA Tanudisastro, IW Deveson, H Dashnow… - Nature Reviews …, 2024 - nature.com
Short tandem repeats (STRs) are highly polymorphic sequences throughout the human
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …
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 …
Assembly and diploid architecture of an individual human genome via single-molecule technologies
We present the first comprehensive analysis of a diploid human genome that combines
single-molecule sequencing with single-molecule genome maps. Our hybrid assembly …
single-molecule sequencing with single-molecule genome maps. Our hybrid assembly …
Genome-wide profiling of heritable and de novo STR variations
T Willems, D Zielinski, J Yuan, A Gordon, M Gymrek… - Nature …, 2017 - nature.com
Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple
genetic diseases, population genetics applications, and forensic casework. However, it has …
genetic diseases, population genetics applications, and forensic casework. However, it has …
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 …
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 …
The landscape of human STR variation
Short tandem repeats are among the most polymorphic loci in the human genome. These
loci play a role in the etiology of a range of genetic diseases and have been frequently …
loci play a role in the etiology of a range of genetic diseases and have been frequently …
Accurate de novo and transmitted indel detection in exome-capture data using microassembly
We present an open-source algorithm, Scalpel (http://scalpel. sourceforge. net/), which
combines mapping and assembly for sensitive and specific discovery of insertions and …
combines mapping and assembly for sensitive and specific discovery of insertions and …
Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species
M Verbiest, M Maksimov, Y Jin… - Journal of …, 2023 - academic.oup.com
Short tandem repeats (STRs) are units of 1–6 bp that repeat in a tandem fashion in DNA.
Along with single nucleotide polymorphisms and large structural variations, they are among …
Along with single nucleotide polymorphisms and large structural variations, they are among …