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The combinatorics of tandem duplication [PDF]
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Luca Penso Dolfin +2 more
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Capacity and expressiveness of genomic tandem duplication [PDF]
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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Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression
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
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Background Most genes in Arabidopsis thaliana are members of gene families. How do the members of gene families arise, and how are gene family copy numbers maintained?
Baumgarten Andrew +4 more
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A Family with an Inverted Tandem Duplication 5q22.1q23.2
Here, we report a 3-year-old boy with short stature, developmental delay and mild facial dysmorphic signs. Karyotype analysis and array-CGH revealed a pure duplication 5q22.1q23.2 with a length of 14.25 Mb. As demonstrated by multicolor-fluorescence in situ hybridization, the duplicated segment was orientated in an inverted tandem manner.
Schmidt, T. +5 more
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Estimation of duplication history under a stochastic model for tandem repeats [PDF]
Background Tandem repeat sequences are common in the genomes of many organisms and are known to cause important phenomena such as gene silencing and rapid morphological changes. Due to the presence of multiple copies of the same pattern in tandem repeats
Farzad Farnoud +2 more
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Familial Lymphoproliferative Malignancies and Tandem Duplication of NF1 Gene [PDF]
Background. Neurofibromatosis type 1 is a genetic disorder caused by loss-of-function mutations in a tumor suppressor gene (NF1) which codifies the protein neurofibromin.
Gustavo Fernandes +4 more
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Improved inference of tandem domain duplications [PDF]
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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On Counting Tandem Duplication Trees [PDF]
IntroductionLarge genomes are full of repeated DNA sequences.It was estimated that over half of the human DNA consistsof repeated sequences (Baltimore 2001; Eichler 2001;Leem et al. 2002). Tandem duplication is one of theimportant evolutionary mechanisms for producing re-peated DNA sequences, in which the copies that may ormay not contain genes are ...
Yang, J., Zhang, L.
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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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