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4,128
.A DNA VARIANTS
, 1994
"... Two novel missense mutations in the cystathionine ß-synthase gene in homocystinuric patients ..."
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Two novel missense mutations in the cystathionine ß-synthase gene in homocystinuric patients
Fast and accurate short read alignment with Burrows-Wheeler transform
- BIOINFORMATICS, 2009, ADVANCE ACCESS
, 2009
"... Motivation: The enormous amount of short reads generated by the new DNA sequencing technologies call for the development of fast and accurate read alignment programs. A first generation of hashtable based methods has been developed, including MAQ, which is accurate, feature rich and fast enough to a ..."
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Cited by 2096 (24 self)
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Motivation: The enormous amount of short reads generated by the new DNA sequencing technologies call for the development of fast and accurate read alignment programs. A first generation of hashtable based methods has been developed, including MAQ, which is accurate, feature rich and fast enough
Frequency of KCNC3 DNA Variants as Causes of
"... Background: Gain-of function or dominant-negative mutations in the voltage-gated potassium channel KCNC3 (Kv3.3) were recently identified as a cause of autosomal dominant spinocerebellar ataxia. Our objective was to describe the frequency of mutations associated with KCNC3 in a large cohort of index ..."
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of index patients with sporadic or familial ataxia presenting to three US ataxia clinics at academic medical centers. Methodology: DNA sequence analysis of the coding region of the KCNC3 gene was performed in 327 index cases with ataxia. Analysis of channel function was performed by expression of DNA
A statistical framework for revealing signaling pathways perturbed by DNA variants
, 2014
"... Much of the inter-individual variation in gene expres-sion is triggered via perturbations of signaling net-works by DNA variants. We present a novel proba-bilistic approach for identifying the particular path-ways by which DNA variants perturb the signaling network. Our procedure, called PINE, relie ..."
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Much of the inter-individual variation in gene expres-sion is triggered via perturbations of signaling net-works by DNA variants. We present a novel proba-bilistic approach for identifying the particular path-ways by which DNA variants perturb the signaling network. Our procedure, called PINE
Inferring causality and functional significance of human coding DNA variants
, 2012
"... Sequencing technology enables the complete characterization of human genetic variation. Statistical genet-ics studies identify numerous loci linked to or associated with phenotypes of direct medical interest. The major remaining challenge is to characterize functionally significant alleles that are ..."
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Cited by 2 (0 self)
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that are causally implicated in the genetic basis of human traits. Here, I review three sources of evidence for the functional significance of human DNA variants in protein-coding genes. These include (i) statistical genetics considerations such as co-segregation with the phenotype, allele frequency in unaffected
MmtDB: a Metazoa mitochondrial DNA variants database
, 1996
"... The present paper describes the structure of MmtDB—a specialized database designed to collect Metazoa mitochondrial DNA variants. Priority in the data collection is given to the Metazoa species for which a large amount of variants is available, as it is the case for human variants. Starting from the ..."
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The present paper describes the structure of MmtDB—a specialized database designed to collect Metazoa mitochondrial DNA variants. Priority in the data collection is given to the Metazoa species for which a large amount of variants is available, as it is the case for human variants. Starting from
RESEARCH ARTICLE Private Mitochondrial DNA Variants in Danish Patients with Hypertrophic
"... Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease primarily caused bymuta-tions in genes coding for sarcomeric proteins. A molecular-genetic etiology can be estab-lished in ~60 % of cases. Evolutionarily conserved mitochondrial DNA (mtDNA) haplogroups are susceptibility factors for HCM. ..."
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. Several polymorphic mtDNA variants are associated with a variety of late-onset degenerative diseases and affect mitochondrial function. We examined the role of private, non-haplogroup associated, mitochondrial variants in the etiology of HCM. In 87 Danish HCM patients, full mtDNA sequencing revealed 446
Update of MmtDB: a Metazoa mitochondrial DNA variants database
, 1998
"... The present paper describes the improvements in MmtDB, a specialised database designed to collect Metazoa mitochondrial DNA variants. Priority in the data collection has been given to Metazoa for which a large amount of variants is available, e.g., for humans. Starting from the sequences available i ..."
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The present paper describes the improvements in MmtDB, a specialised database designed to collect Metazoa mitochondrial DNA variants. Priority in the data collection has been given to Metazoa for which a large amount of variants is available, e.g., for humans. Starting from the sequences available
Sequence analysis Inferring relative proportions of DNA variants from sequencing electropherograms
"... Motivation: Determination of the relative copy number of single-nucleotide sequence variants (SNVs) within a DNA sample is a frequent experimental goal. Various methods can be applied to this problem, although hybridization-based approaches tend to suffer from high-setup cost and poor adaptability, ..."
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Motivation: Determination of the relative copy number of single-nucleotide sequence variants (SNVs) within a DNA sample is a frequent experimental goal. Various methods can be applied to this problem, although hybridization-based approaches tend to suffer from high-setup cost and poor adaptability
Results 1 - 10
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4,128
