Capacity and expressiveness of genomic tandem duplication [PDF]
2015 IEEE International Symposium on Information Theory (ISIT), 2015 The majority of the human genome consists of repeated sequences. An important type of repeated sequences common in the human genome are tandem repeats, where identical copies appear next to each other. For example, in the sequence $AGTC\underline{TGTG}C$, $TGTG$ is a tandem repeat, that may be generated from $AGTCTGC$ by a tandem duplication of length $
Siddharth Jain +2 more
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Identification and characterization of disease-related copy number variations (CNVs) by high-dense SNP oligonucleotide microarrays [PDF]
, 2012 Genomic microarray analysis is rapidly replacing conventional chromosome analysis by molecular karyotyping due to the significant increase in the power to detect causative CNVs.
Rivera Brugués, Núria
core +6 more sources
Improved inference of tandem domain duplications [PDF]
Bioinformatics, 2021 Abstract Motivation Protein domain duplications are a major contributor to the functional diversification of protein families. These duplications can occur one at a time through single domain duplications, or as tandem duplications where several consecutive domains are duplicated together as part of a
Chaitanya Aluru, Mona Singh 0001
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Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression
EMBO Molecular Medicine, 2021 Tandem duplication mutations are increasingly found to be the direct cause of many rare heritable diseases, accounting for up to 10% of cases. Unfortunately, animal models recapitulating such mutations are scarce, limiting our ability to study them and ...
Eleonora Maino +14 more
doaj +1 more source
An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome [PDF]
Disease Models & MechanismsEleonora Maino +13 more
doaj +2 more sources
Genotyping of Inversions and Tandem Duplications [PDF]
Bioinformatics, 2016 Abstract Motivation Next Generation Sequencing (NGS) has enabled studying structural genomic variants (SVs) such as duplications and inversions in large cohorts. SVs have been shown to play important roles in multiple diseases, including cancer.
J. Ebler (Jana) +2 more
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Diagnostic Molecular Pathology, 2013 Internal tandem duplication (ITD) mutations of the FLT3 gene have been associated with a poor prognosis in acute myeloid leukemia. Detection of ITD-positive minor clones at the initial diagnosis and during the minimal residual disease stage may be essential.
Ming-Tseh, Lin +9 more
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Haematologica, 2011 Background Fms-like tyrosine kinase-3 (FLT3) gene mutations are frequent in acute promyelocytic leukemia but their prognostic value is not well established.Design and Methods We evaluated FLT3-internal tandem duplication and FLT3-D835 mutations in ...
Eva Barragán +19 more
doaj +1 more source
Construction of tandem duplication correcting codes [PDF]
IET Communications, 2019 Tandem duplication (TD) errors occur when data is stored in the DNA of living organisms. The construction of codes to correct these errors was previously considered. A method was proposed to construct codes for TD errors of length at most k , , based ...
Mohamadbagher Zeraatpisheh +2 more
openaire +1 more source
The presence of a FLT3 internal tandem duplication in patients with acute myeloid leukemia (AML) adds important prognostic information to cytogenetic risk group and response to the first cycle of chemotherapy: analysis of 854 patients from the United Kingdom Medical Research Council AML 10 and 12 trials [PDF]
, 2001 In acute myeloid leukemia (AML), further prognostic determinants are required in addition to cytogenetics to predict patients at increased risk of relapse.
Anthony H. Goldstone +45 more
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