Polymorphic Tandem Repeat (PTR) is a common form of polymorphism in the human genome. A PTR consists in a variation found in an individual (or in a population) of the number of repeating units of a Tandem Repeat (TR) locus of the genome with respect to ...
Loredana M. Genovese +11 more
doaj +1 more source
DNA polymerase stalling at structured DNA constrains the expansion of short tandem repeats
Background Short tandem repeats (STRs) contribute significantly to de novo mutagenesis, driving phenotypic diversity and genetic disease. Although highly diverse, their repetitive sequences induce DNA polymerase slippage and stalling, leading to length ...
Pierre Murat, G. Guilbaud, J. Sale
semanticscholar +1 more source
PERGA: A Paired-End Read Guided De Novo Assembler for Extending Contigs Using SVM and Look Ahead Approach [PDF]
Since the read lengths of high throughput sequencing (HTS) technologies are short, de novo assembly which plays significant roles in many applications remains a great challenge. Most of the state-of-the-art approaches base on de Bruijn graph strategy and
Chin, FYL +6 more
core +3 more sources
Applications of X-Chromosome Short Tandem Repeats for Human Identification: A Review
The forensic DNA profiling technique has tremendously contributed to forensic human identification, an important aspect in forensic investigations.
Naji Arafat Mahat +5 more
doaj +1 more source
Chimerism refers to the relative proportion of donor and recipient DNA after hematopoietic stem cell transplantation (HSCT) and its quantitative follow-up is of great clinical utility in this setting. PCR of short tandem repeats (STR-PCR) constitutes the
A. Navarro-Bailón +11 more
semanticscholar +1 more source
De novo Development and Characterization of Tetranucleotide Microsatellite Loci Markers from a Southeastern Population of the House Finch (Haemorhous mexicanus) [PDF]
Microsatellites are short tandem repeats (e.g. TAGATAGA) of base pairs in a species’ genome. High mutation rates in these regions produce variation in the number of repeats across individuals that can be utilized to study patterns of population- and ...
Barron, Douglas G +2 more
core +3 more sources
Chromosomal-level assembly of the Asian Seabass genome using long sequence reads and multi-layered scaffolding [PDF]
We report here the ~670 Mb genome assembly of the Asian seabass (Lates calcarifer), a tropical marine teleost. We used long-read sequencing augmented by transcriptomics, optical and genetic mapping along with shared synteny from closely related fish ...
A Bairoch +190 more
core +10 more sources
Short tandem repeat polymorphism evolution in humans [PDF]
Forty-five dinucleotide short tandem repeat polymorphisms were typed in ten large samples of a globally distributed set of populations. Although these markers had been selected for high heterozygosity in European populations, we found them to be sufficiently informative for linkage analysis in non-Europeans.
F, Calafell +4 more
openaire +2 more sources
Accuracy of short tandem repeats genotyping tools in whole exome sequencing data
Background Short tandem repeats are important source of genetic variation, they are highly mutable and repeat expansions are associated dozens of human disorders, such as Huntington’s disease and spinocerebellar ataxias.
A. Halman, A. Oshlack
semanticscholar +1 more source
Retrospective cell lineage reconstruction in humans by using short tandem repeats
Summary: Cell lineage analysis aims to uncover the developmental history of an organism back to its cell of origin. Recently, novel in vivo methods utilizing genome editing enabled important insights into the cell lineages of animals.
Liming Tao +21 more
doaj +1 more source

