Results 71 to 80 of about 612,525 (237)

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, Morteza Esmaeili, T. Aaron Gulliver   +2 more
openaire   +1 more source

Partial duplication of the PRLR and SPEF2 genes at the late feathering locus in chicken

BMC Genomics, 2008
Background One of the loci responsible for feather development in chickens is K. The K allele is partially dominant to the k+ allele and causes a retard in the emergence of flight feathers at hatch.
Crooijmans Richard PMA, Jungerius Annemieke P, Vallée Amélie AA, Elferink Martin G, Groenen Martien AM   +4 more
doaj   +1 more source

Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations [PDF]

, 2015
Background: Retinoblastoma, the most common ocular cancer of childhood, is caused by inactivation of the RB1 tumor suppressor gene in the developing retina.
Alonso, Cristina, Ferrer, Marcela Maria, Giliberto, Florencia, Luce, Leonela Natalia, Ottaviani, Daniela, Parma, Diana Lidia, Szijan, Irena   +6 more
core   +1 more source

Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

Human Mutation, 2018
Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and a high genetic heterogeneity. Among those, IFT140 is implicated in a variety of phenotypes ranging from isolated retinis pigmentosa to more syndromic cases.
Véronique Geoffroy, C. Stoetzel, Sophie Scheidecker, E. Schaefer, I. Perrault, S. Bär, Ariane Kröll, Marion Delbarre, M. Antin, Anne-Sophie Leuvrey, Charline Henry, H. Blanché, E. Decker, K. Kloth, G. Klaus, C. Mache, D. Martin‐Coignard, Steven McGinn, A. Boland, J. Deleuze, S. Friant, S. Saunier, J. Rozet, C. Bergmann, H. Dollfus, J. Muller   +25 more
semanticscholar   +1 more source

The Capacity of Some P\'olya String Models [PDF]

, 2018
We study random string-duplication systems, which we call P\'olya string models. These are motivated by DNA storage in living organisms, and certain random mutation processes that affect their genome.
Bruck, Jehoshua, Elishco, Ohad, Farnoud, Farzad, Schwartz, Moshe   +3 more
core   +1 more source

Computing the Tandem Duplication Distance is NP-Hard

SIAM Journal on Discrete Mathematics, 2022
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Lafond, Manuel, Zhu, Binhai, Zou, Peng
openaire   +2 more sources

A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer

BMC Cancer, 2005
The FANCA gene is one of the genes in which mutations lead to Fanconi anaemia, a rare autosomal recessive disorder characterised by congenital abnormalities, bone marrow failure, and predisposition to malignancy.
Campbell Ian G, Eccles Diana M, Stephenson Sally-Anne, Dragovic Rebecca L, Thompson Ella, Dobrovic Alexander   +5 more
doaj   +1 more source

Functional Bias and Spatial Organization of Genes in Mutational Hot and Cold Regions in the Human Genome [PDF]

, 2004
The neutral mutation rate is known to vary widely along human chromosomes, leading to mutational hot and cold regions. We provide evidence that categories of functionally-related genes reside preferentially in mutationally hot or cold regions, the size ...
Chuang, Jeffrey H., Li, Hao
core   +5 more sources

Partial tandem duplication of KMT2A (MLL) may predict a subset of myelodysplastic syndrome with unique characteristics and poor outcome

Haematologica, 2018
Partial tandem duplication (PTD) of the KMT2A (MLL) gene is detected in approximately 5-10% of cases of acute myeloid leukemia (AML)[1][1]–[5][2] and within cases showing normal karyotype, confers a worse prognosis.[2][3],[6][4],[7][5] In these patients,
Sarah M Choi, R. Dewar, P. Burke, Lina Shao   +3 more
semanticscholar   +1 more source

Generation of tandem direct duplications by reversed-ends transposition of maize ac elements. [PDF]

PLoS Genetics, 2013
Tandem direct duplications are a common feature of the genomes of eukaryotes ranging from yeast to human, where they comprise a significant fraction of copy number variations.
Jianbo Zhang, Tao Zuo, Thomas Peterson
doaj   +1 more source