Results 11 to 20 of about 3,537,585 (186)

Mutations of short tandem repeats explain abundant trait heritability in Arabidopsis. [PDF]

open access: yesGenome Biol
Background Short tandem repeat (STR) mutations are major drivers of genetic variation and deeply influence phenotypic diversity and evolution, they are often overlooked despite their significant effects.
Zhang ZQ   +6 more
europepmc   +2 more sources

Genotyping short tandem repeats across copy number alterations, aneuploidies, and polyploid organisms. [PDF]

open access: yesCommun Biol
Short tandem repeats (STRs) are a rich source of genetic variation, but are difficult to genotype. While specialized repeat variant callers exist, they typically assume a euploid human genome.
Verbiest MA   +3 more
europepmc   +3 more sources

Polymorphic short tandem repeats make widespread contributions to blood and serum traits. [PDF]

open access: yesCell Genom, 2023
Margoliash J   +6 more
europepmc   +2 more sources

Aspectos biodemográficos de grupos étnicos Macro-Pano de Bolivia y caracterización genética de las poblaciones Aymará, Quechua, Chimane y Mosetén [PDF]

open access: yes, 2011
[spa] La tesis trata de definir algunos aspectos de la situación demográfica y describir la genética poblacional a partir del estudio de haplogrupos del ADN mitocondrial (ADNmt), secuenciación de la región de control d-loop del ADNmt (HVRI), de ...
Bert i Fibla, Francesc
core   +7 more sources

The Genomic landscape of short tandem repeats across multiple ancestries

open access: yesPLoS ONE, 2023
Short Tandem Repeats (STRs) have been found to play a role in a myriad of complex traits and genetic diseases. We examined the variability in the lengths of over 850,000 STR loci in 996 children with suspected genetic disorders and 1,178 parents across ...
Prashanth Vijayaraghavan   +7 more
doaj   +2 more sources

Counting short tandem repeats [PDF]

open access: yesNature Methods, 2020
A method using CRISPR–Cas technology, nanopore sequencing and bioinformatics enables quantification of short tandem repeats with high accuracy.
openaire   +2 more sources

The mutational dynamics of short tandem repeats in large, multigenerational families

open access: yesGenome Biology, 2022
Background Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome ...
Cody J. Steely   +3 more
doaj   +1 more source

Author Correction: Short tandem repeats delineate gene bodies across eukaryotes. [PDF]

open access: yesNat Commun
Reinar WB   +4 more
europepmc   +2 more sources

Mutation of human short tandem repeats [PDF]

open access: yesHuman Molecular Genetics, 1993
A total of 20,000 parent-offspring transfers of alleles were examined through the genotyping within 40 CEPH reference families of 28 short tandem repeat polymorphisms (STRPs) located on chromosome 19. Forty-seven initial mutation events were detected in the STRPs using DNA from transformed lymphoblastoid cell lines, but less than half (39%) could be ...
J L, Weber, C, Wong
openaire   +2 more sources

Analysis of short tandem repeats by parallel DNA threading. [PDF]

open access: yesPLoS ONE, 2009
The majority of studies employing short tandem repeats (STRs) require investigation of several of these genetic markers. As such, we demonstrate the feasibility of the trinucleotide threading (TnT) approach for scalable analysis of STRs.
Pawel Zajac   +2 more
doaj   +1 more source

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