Results 11 to 20 of about 65,971 (285)

Modification of Huntington's disease by short tandem repeats. [PDF]

Brain Commun
Abstract Expansions of glutamine-coding CAG trinucleotide repeats cause a number of neurodegenerative diseases, including Huntington’s disease and several of spinocerebellar ataxias. In general, age-at-onset of the polyglutamine diseases is inversely correlated with the size of the respective inherited expanded CAG repeat.
Hong EP, Ramos EM, Aziz NA, Massey TH, McAllister B, Lobanov S, Jones L, Holmans P, Kwak S, Orth M, Ciosi M, Lomeikaite V, Monckton DG, Long JD, Lucente D, Wheeler VC, Gillis T, MacDonald ME, Sequeiros J, Gusella JF, Lee JM.   +20 more
europepmc   +4 more sources

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

Communications Biology
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.
Max A. Verbiest, Elena Grassi, Andrea Bertotti, Maria Anisimova   +3 more
doaj   +3 more sources

Short Tandem Repeats in Human Exons: A Target for Disease Mutations

BMC Genomics, 2008
Background In recent years it has been demonstrated that structural variations, such as indels (insertions and deletions), are common throughout the genome, but the implications of structural variations are still not clearly understood.
Villesen Palle, Madsen Bo, Wiuf Carsten
doaj   +2 more sources

Database of exact tandem repeats in the Zebrafish genome

BMC Genomics, 2010
Background Sequencing of the approximately 1.7 billion bases of the zebrafish genome is currently underway. To date, few high resolution genetic maps exist for the zebrafish genome, based mainly on single nucleotide polymorphisms (SNPs) and short ...
Rouchka Eric C
doaj   +2 more sources

Evaluation of allelic alterations in short tandem repeats in papillary thyroid cancer

Molecular Genetics & Genomic Medicine, 2020
Background Malignant tissue samples may be the only source of biological material for forensic investigations, including individual identification or paternity testing; however, such samples may lead to uncertainties due to frequent genomic aberrations ...
Zhen Dang, Lu Li, Xia Kong, Guoan Zhang, Qi Liu, Haibin Li, Liang Li, Renya Zhang, Wen Cui, Yequan Wang   +9 more
doaj   +2 more sources

Tandem repeats discovery service (TReaDS) applied to finding novel cis-acting factors in repeat expansion diseases [PDF]

BMC Bioinformatics, 2012
Background Tandem repeats are multiple duplications of substrings in the DNA that occur contiguously, or at a short distance, and may involve some mutations (such as substitutions, insertions, and deletions).
Pellegrini Marco, Renda Maria Elena, Vecchio Alessio   +2 more
doaj   +2 more sources

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

Cell Genomics, 2023
Jonathan Margoliash, Alon Goren, Melissa Gymrek   +2 more
exaly   +2 more sources

Structural variants and short tandem repeats impact gene expression and splicing in bovine testis tissue [PDF]

Genetics, 2023
Meenu Bhati, Xena Marie Mapel, Audald Lloret-Villas   +2 more
exaly   +3 more sources

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

Nature Communications
William B. Reinar, Anders K. Krabberød, Vilde O. Lalun, Melinka A. Butenko, Kjetill S. Jakobsen   +4 more
doaj   +2 more sources

The Genomic landscape of short tandem repeats across multiple ancestries

PLoS 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, Sergey Batalov, Yan Ding, Erica Sanford, Stephen F. Kingsmore, David Dimmock, Charlotte Hobbs, Matthew Bainbridge   +7 more
doaj   +2 more sources