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DNA Pooling in Mutation Detection with Reference to Sequence Analysis [PDF]
The American Journal of Human Genetics, 2000 We discuss pooling methods of mutation detection for identifying rare mutations. We provide mathematical formulae for obtaining the optimal pool size as a function of the mutation frequency in the study population and the specificity of the test. The optimal pool size depends strongly on the specificity of the test. With a test that has 99% specificity,
Christopher I. Amos +2 more
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Label-Free Detection of DNA Mutations by Nanopore Analysis [PDF]
ACS Applied Materials & Interfaces, 2018 Cancers are caused by mutations to genes that regulate cell normal functions. The capability to rapid and reliable detection of specific target gene variations can facilitate early disease detection and diagnosis and also enables personalized treatment of cancer.
Xiaohan Chen +6 more
openalex +4 more sources
Survival analysis of DNA mutation motifs with penalized proportional hazards
The Annals of Applied Statistics, 2019 Antibodies, an essential part of our immune system, develop through an intricate process to bind a wide array of pathogens. This process involves randomly mutating DNA sequences encoding these antibodies to find variants with improved binding, though mutations are not distributed uniformly across sequence sites. Immunologists observe this nonuniformity
Jean Feng +4 more
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Divergent mutational processes distinguish hypoxic and normoxic tumours. [PDF]
, 2020 Many primary tumours have low levels of molecular oxygen (hypoxia), and hypoxic tumours respond poorly to therapy. Pan-cancer molecular hallmarks of tumour hypoxia remain poorly understood, with limited comprehension of its associations with specific ...
Bhandari, Vinayak +4 more
core +1 more source
Arrival of Paleo-Indians to the Southern Cone of South America: New Clues from Mitogenomes [PDF]
, 2012 With analyses of entire mitogenomes, studies of Native American mitochondrial DNA (mtDNA) variation have entered the final phase of phylogenetic refinement: the dissection of the founding haplogroups into clades that arose in America during and after ...
Achilli, Alessandro +14 more
core +12 more sources
Mutational analysis of mitochondrial DNA in Brugada syndrome [PDF]
Cardiovascular Pathology, 2016 Brugada syndrome (BrS) is a primary electrical disease associated with an increased risk of sudden cardiac death due to ventricular fibrillation. This pathology has nuclear heterogeneous genetic origins, and at present, molecular diagnostic tests on nuclear DNA cover only 30% of BrS patients. The aim of this study was to assess the possible involvement
STOCCHI, LAURA +12 more
openaire +4 more sources
Common Mitochondrial DNA Mutations Generated through DNA-Mediated Charge Transport [PDF]
, 2009 Mutation sites that arise in human mitochondrial DNA as a result of oxidation by a rhodium photooxidant have been identified. HeLa cells were incubated with [Rh(phi)2bpy]Cl3 (phi is 9,10-phenanthrenequinone diimine), an intercalating photooxidant, to ...
Barton, Jacqueline K. +2 more
core +2 more sources
Chitosan-modified graphene electrodes for DNA mutation analysis [PDF]
Journal of Electroanalytical Chemistry, 2012 Graphene has remarkable electrochemical properties that make it an ideal material for constructing biosensors,however it has not been explored for DNA biosensing. Herein, we report on a chitosan-modified graphene platform for the electrochemical detection of changes in DNA sequences.
Subbiah, Alwarappan +4 more
openaire +2 more sources
The C Terminus of Ku80 activates the DNA-dependent protein kinase catalytic subunit [PDF]
, 1999 Ku is a heterodimeric protein with double-stranded DNA end-binding activity that operates in the process of nonhomologous end joining. Ku is thought to target the DNA-dependent protein kinase (DNA-PK) complex to the DNA and, when DNA bound, can interact ...
Jeggo, P A +4 more
core +2 more sources
Quantitative Mitochondrial DNA Mutation Analysis by Denaturing HPLC [PDF]
Clinical Chemistry, 2007 AbstractBackground: In recent years, denaturing HPLC (DHPLC) has been widely used to screen the whole mitochondrial genome or specific regions of the genome for DNA mutations. The quantification and mathematical modeling of DHPLC results is, however, underexplored.Methods: We generated site-directed mutants containing some common mutations in the ...
Kok Seong, Lim +2 more
openaire +2 more sources