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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
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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
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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
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ALLELE FREQUENCY OF GLUTENIN SUBUNITS AND GLU-1 QUALITY SCORES IN SOME TURKISH BREAD WHEAT LANDRACES
Trakya University Journal of Natural Sciences, 2020 There are eight centers of origin for cultivated plants and Turkey is located in the interception of two of these centers, the Near East and the Mediterranean.
Ridvan Temızgul, Mikail Akbulut
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The Impact of Variant Allele Frequency in EGFR Mutated NSCLC Patients on Targeted Therapy
Frontiers in Oncology, 2021 EGFR mutations represent the most common currently targetable oncogenic driver in non-small cell lung cancer. There has been tremendous progress in targeting this alteration over the course of the last decade, and third generation tyrosine kinase ...
Alex Friedlaender +4 more
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Frontiers in Immunology, 2023 Pemphigus vulgaris (PV) is an acquired autoimmune blistering disease characterized by the production of autoantibodies targeting desmosomal cadherins, primarily desmoglein 1 and desmoglein 3, leading to acantholysis. The etiology of PV is multifactorial,
Ines Lakoš Jukić +4 more
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ALFRED: An Allele Frequency Database for Microevolutionary Studies
Evolutionary Bioinformatics, 2005 Many kinds of microevolutionary studies require data on multiple polymorphisms in multiple populations. Increasingly, and especially for human populations, multiple research groups collect relevant data and those data are dispersed widely in the ...
Haseena Rajeevan +8 more
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Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico. [PDF]
PLoS ONE, 2016 Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Folate deficiency has been related to several conditions, including neural tube defects (NTDs) and cardiovascular diseases.
Cecilia Contreras-Cubas +15 more
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Shanghai yufang yixue, 2022 ObjectiveTo investigate the resistance to pyrethroids， beta-cyhalothrin and fenitrothion as well as the frequencies of kdr and ace⁃1 alleles in Anopheles sinensis from three geographical populations in Chongming District， Shanghai.MethodsThe contact ...
WEI Zixin +6 more
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