A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy
Sign Up to like & getrecommendations! Published in 2021 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-021-05376-w
Abstract: North Carolina macular dystrophy (NCMD) is a rare autosomal dominant inherited disorder characterized by macular impairment with a variety of phenotypic manifestations. The aims of this study were to assess the clinical features of a… read more here.
Keywords: carolina macular; chinese family; family; tandem duplication ... See more keywords
Detection and Quantification of FLT3 Internal Tandem Duplication Mutations Do Not Vary Significantly Between Whole Blood and Blast-Enriched Samples.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of clinical pathology"
DOI: 10.1093/ajcp/aqz166
Abstract: OBJECTIVES Many commonly used FLT3 mutational assay protocols require a tedious blast enrichment step. We investigated whether elimination of this step would still give equivalent results and compared the accuracy of variant allele fraction (VAF)… read more here.
Keywords: blast; blast enriched; flt3 internal; internal tandem ... See more keywords
Comprehensive review and evaluation of computational methods for identifying FLT3-internal tandem duplication in acute myeloid leukaemia
Sign Up to like & getrecommendations! Published in 2021 at "Briefings in bioinformatics"
DOI: 10.1093/bib/bbab099
Abstract: Internal tandem duplication (ITD) of FMS-like tyrosine kinase 3 (FLT3-ITD) constitutes an independent indicator of poor prognosis in acute myeloid leukaemia (AML). AML with FLT3-ITD usually presents with poor treatment outcomes, high recurrence rate and… read more here.
Keywords: internal tandem; flt3; tandem duplication; acute myeloid ... See more keywords
Reconstruction Codes for DNA Sequences With Uniform Tandem-Duplication Errors
Sign Up to like & getrecommendations! Published in 2020 at "IEEE Transactions on Information Theory"
DOI: 10.1109/tit.2019.2940256
Abstract: DNA as a data storage medium has several advantages, including far greater data density compared to electronic media. We propose that schemes for data storage in the DNA of living organisms may benefit from studying… read more here.
Keywords: uniform tandem; reconstruction codes; codes dna; tandem duplication ... See more keywords
Uncertainty of Reconstruction With List-Decoding From Uniform-Tandem-Duplication Noise
Sign Up to like & getrecommendations! Published in 2021 at "IEEE Transactions on Information Theory"
DOI: 10.1109/tit.2021.3070466
Abstract: We propose a list-decoding scheme for reconstruction codes in the context of uniform-tandem-duplication noise, which can be viewed as an application of the associative memory model to this setting. We find the uncertainty associated with… read more here.
Keywords: reconstruction; tandem duplication; uncertainty; list decoding ... See more keywords
Error-Correcting Codes for Short Tandem Duplication and Edit Errors
Sign Up to like & getrecommendations! Published in 2022 at "IEEE Transactions on Information Theory"
DOI: 10.1109/tit.2021.3125724
Abstract: Due to its high data density and longevity, DNA is considered a promising medium for satisfying ever-increasing data storage needs. However, the diversity of errors that occur in DNA sequences makes efficient error-correction a challenging… read more here.
Keywords: duplication; short tandem; tandem duplication; edit ... See more keywords
EqualTDRL: illustrating equivalent tandem duplication random loss rearrangements
Sign Up to like & getrecommendations! Published in 2018 at "BMC Bioinformatics"
DOI: 10.1186/s12859-018-2170-x
Abstract: BackgroundTo study the differences between two unichromosomal circular genomes, e.g., mitochondrial genomes, under the tandem duplication random loss (TDRL) rearrangement it is important to consider the whole set of potential TDRL rearrangement events that could… read more here.
Keywords: random loss; tandem duplication; circular gene; duplication random ... See more keywords
Sucrose-phosphate phosphatase from sugarcane reveals an ancestral tandem duplication
Sign Up to like & getrecommendations! Published in 2021 at "BMC Plant Biology"
DOI: 10.1186/s12870-020-02795-5
Abstract: Background Sugarcane is capable to store large amounts of sucrose in the culm at maturity hence it became a major source of sucrose for the food and the renewable energy industries. Sucrose, the main disaccharide… read more here.
Keywords: tandem duplication; sucrose phosphate; sugarcane; phosphate phosphatase ... See more keywords
Childhood-onset epileptic encephalopathy due to FGF12 exon 1–4 tandem duplication
Sign Up to like & getrecommendations! Published in 2020 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000494
Abstract: Fibroblast growth factor 12 (FGF12) spans 5 exons and encodes for a cytosolic voltage-gated sodium channel binding protein that modulates neuronal excitability.1,2 A recurrent activating FGF12 mutation (NM_021032, [GRCh37] 192053223C>T, p.R114H in A-isoform, p.R52H in… read more here.
Keywords: onset epileptic; tandem duplication; epileptic encephalopathy; fgf12 exon ... See more keywords
R-locus for roaned coat is associated with a tandem duplication in an intronic region of USH2A in dogs and also contributes to Dalmatian spotting
Sign Up to like & getrecommendations! Published in 2021 at "PLoS ONE"
DOI: 10.1371/journal.pone.0248233
Abstract: Structural variations (SVs) represent a large fraction of all genetic diversity, but how this genetic diversity is translated into phenotypic and organismal diversity is unclear. Explosive diversification of dog coat color and patterns after domestication… read more here.
Keywords: duplication intronic; diversity; tandem duplication; coat ... See more keywords
Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression
Sign Up to like & getrecommendations! Published in 2021 at "EMBO Molecular Medicine"
DOI: 10.15252/emmm.202013228
Abstract: 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… read more here.
Keywords: genome editing; duplication; targeted genome; tandem duplication ... See more keywords