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Kernel density estimation of allele frequency including undetected alleles [PDF]

open access: yesPeerJ
Whereas 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

Empirical distributions of F(ST) from large-scale human polymorphism data. [PDF]

open access: yesPLoS ONE, 2012
Studies of the apportionment of human genetic variation have long established that most human variation is within population groups and that the additional variation between population groups is small but greatest when comparing different continental ...
Eran Elhaik
doaj   +6 more sources

Enrichment of rare alleles within epigenetic chromatin marks in the first intron [PDF]

open access: yesGenomics & 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
doaj   +1 more source

Allele Frequencies Database [PDF]

open access: yesTransfusion 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.
Louise Y C, Takeshita   +3 more
openaire   +2 more sources

Confirming putative variants at ≤ 5% allele frequency using allele enrichment and Sanger sequencing

open access: yesScientific 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

High throughput automated allele frequency estimation by pyrosequencing. [PDF]

open access: yesPLoS 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

A genetic Study to Darwin's tubercle trait of External ear in the Population of Salah Al –Dein and Kirkuk

open access: yesTikrit Journal of Pure Science, 2023
A genetic study for the trait of Darwin's tubercle in two ways : first , on a sample consisted of 52 family from Tikrit city in governorate Salah AL-Dein and 125 individual from their sons and 63 family from governorate of Kirkuk and 188 individual from
Adel Fawzy Shihab, Marwa Amer Shakir
doaj   +1 more source

ALLELE FREQUENCY OF GLUTENIN SUBUNITS AND GLU-1 QUALITY SCORES IN SOME TURKISH BREAD WHEAT LANDRACES

open access: yesTrakya 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
doaj   +1 more source

The Impact of Variant Allele Frequency in EGFR Mutated NSCLC Patients on Targeted Therapy

open access: yesFrontiers 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
doaj   +1 more source

Disparities in allele frequencies and population differentiation for 101 disease-associated single nucleotide polymorphisms between Puerto Ricans and Non-Hispanic Whites [PDF]

open access: yes, 2009
BACKGROUND. Variations in gene allele frequencies can contribute to differences in the prevalence of some common complex diseases among populations. Natural selection modulates the balance in allele frequencies across populations.
Adiconis, Xian   +9 more
core   +7 more sources

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