Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity
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The diploid genome sequence of an individual humanClimbing Mount Probable: Mutation as a Cause of Nonrandomness in EvolutionGlobal and unbiased detection of splice junctions from RNA-seq dataAnalysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes ProjectGenetic analysis of West Nile virus isolates from an outbreak in Idaho, United States, 2006-2007Evolutionary hierarchies of conserved blocks in 5'-noncoding sequences of dicot rbcS genesSequence features of HLA-DRB1 locus define putative basis for gene conversion and point mutationsHypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits.Mutation spectrum of Drosophila CNVs revealed by breakpoint sequencing.A novel application of pattern recognition for accurate SNP and indel discovery from high-throughput data: targeted resequencing of the glucocorticoid receptor co-chaperone FKBP5 in a Caucasian populationA generalized mechanistic codon modelComplexity: an internet resource for analysis of DNA sequence complexitySpectrum of mutations in Gitelman syndrome.Double-strand breaks in the myotonic dystrophy type 1 and the fragile X syndrome triplet repeat sequences induce different types of mutations in DNA flanking sequences in Escherichia coli.On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.The -2549 insertion/deletion polymorphism in the promoter region of the VEGFA gene in couples with idiopathic recurrent spontaneous abortionSequence context affects the rate of short insertions and deletions in flies and primates.Recent computational approaches to understand gene regulation: mining gene regulation in silico.A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy.Ride the wavelet: A multiscale analysis of genomic contexts flanking small insertions and deletions.Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates.Insertions and deletions are male biased too: a whole-genome analysis in rodentsThe evolution of the human genome.Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes.DNA mutation motifs in the genes associated with inherited diseases.A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma.A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.An efficient DNA-fueled molecular machine for the discrimination of single-base changes.Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.CpG/CpNpG motifs in the coding region are preferred sites for mutagenesis in the breast cancer susceptibility genes.Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A.A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome.Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes.De novo design of functional oligonucleotides with acyclic scaffolds.Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanismsMeta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage
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P2860
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity
description
article
@en
im Dezember 2002 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в грудні 2002
@uk
name
Meta-analysis of indels causin ...... local DNA sequence complexity
@en
Meta-analysis of indels causin ...... local DNA sequence complexity
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type
label
Meta-analysis of indels causin ...... local DNA sequence complexity
@en
Meta-analysis of indels causin ...... local DNA sequence complexity
@nl
prefLabel
Meta-analysis of indels causin ...... local DNA sequence complexity
@en
Meta-analysis of indels causin ...... local DNA sequence complexity
@nl
P2093
P356
P1433
P1476
Meta-analysis of indels causin ...... local DNA sequence complexity
@en
P2093
Edward V. Ball
Emmanuel J. Anassis
Nadia A. Chuzhanova
P2860
P356
10.1002/HUMU.10146
P577
2002-12-20T00:00:00Z