Kernel density estimation of allele frequency including undetected alleles [PDF]
PeerJWhereas undetected species contribute to estimation of species diversity, undetected alleles have not been used to estimated genetic diversity. Although random sampling guarantees unbiased estimation of allele frequency and genetic diversity measures ...
Satoshi Aoki, Keita Fukasawa
doaj +5 more sources
Kinetic FP-TDI Assay for SNP Allele Frequency Determination [PDF]
BioTechniques, 2003 Strategies for identifying genetic risk factors in complex diseases by association studies require the comparison of allele frequencies of numerous SNPs between affected and control populations.
Ming Xiao +2 more
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Non-equilibrium theory of the allele frequency spectrum [PDF]
Theoretical Population Biology, 2006 A forward diffusion equation describing the evolution of the allele frequency spectrum is presented. The influx of mutations is accounted for by imposing a suitable boundary condition.
Evans, Steven N. +2 more
core +6 more sources
iMAF - INDEX OF MAJOR ALLELE FREQUENCY
Genetics & Applications, 2018 Naris Pojskić
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Determining SNP Allele Frequencies in DNA Pools [PDF]
BioTechniques, 2000 Single nucleotide polymorphisms (SNPs) are among the most common types of polymorphism used for genetic association studies. A method to allow the accurate quantitation of their allele frequencies from DNA pools would both increase throughput and decrease costs for large-scale genotyping.
Gerome Breen +4 more
openalex +5 more sources
Allele Frequencies Database [PDF]
Transfusion Medicine and Hemotherapy, 2014 This review describes a database for the collection, archiving, sorting, searching and display of gene and allele frequencies for immunogenetic genes.
Faviel F. Gonzalez-Galarza +3 more
openaire +3 more sources
Enrichment of rare alleles within epigenetic chromatin marks in the first intron [PDF]
Genomics & Informatics, 2019 In previous studies, we demonstrated that some sites in the first intron likely regulate gene expression. In the present work, we sought to further confirm the functional relevance of first intron sites by estimating the quantity of rare alleles in the ...
Shin-Sang Jo, Sun Shim Choi
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Confirming putative variants at ≤ 5% allele frequency using allele enrichment and Sanger sequencing
Scientific Reports, 2021 Whole exome sequencing (WES) is used to identify mutations in a patient’s tumor DNA that are predictive of tumor behavior, including the likelihood of response or resistance to cancer therapy. WES has a mutation limit of detection (LoD) at variant allele
Yan Helen Yan +6 more
doaj +1 more source
Warmblood fragile foal syndrome type 1 mutation (PLOD1 c.2032G>A) is not associated with catastrophic breakdown and has a low allele frequency in the Thoroughbred breed. [PDF]
, 2020 BackgroundCatastrophic fractures are among the most common cause of fatalities in racehorses. Several factors, including genetics, likely contribute to increased risk for fatal injuries.
Arthur, R +6 more
core +1 more source
High throughput automated allele frequency estimation by pyrosequencing. [PDF]
PLoS ONE, 2008 Pyrosequencing is a DNA sequencing method based on the principle of sequencing-by-synthesis and pyrophosphate detection through a series of enzymatic reactions.
Julie Doostzadeh +8 more
doaj +1 more source