Results 1 to 10 of about 638,021 (120)

Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

open access: yesNature Communications, 2021
A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21077-8.
Qingbo Wang   +11 more
doaj   +1 more source

The population genetics of dN/dS. [PDF]

open access: yesPLoS Genetics, 2008
Evolutionary pressures on proteins are often quantified by the ratio of substitution rates at non-synonymous and synonymous sites. The dN/dS ratio was originally developed for application to distantly diverged sequences, the differences among which ...
Sergey Kryazhimskiy, Joshua B Plotkin
doaj   +1 more source

Information-Geometric Optimization with Natural Selection

open access: yesEntropy, 2020
Evolutionary algorithms, inspired by natural evolution, aim to optimize difficult objective functions without computing derivatives. Here we detail the relationship between classical population genetics of quantitative traits and evolutionary ...
Jakub Otwinowski   +2 more
doaj   +1 more source

Archetypal Analysis for population genetics.

open access: yesPLoS Computational Biology, 2022
The estimation of genetic clusters using genomic data has application from genome-wide association studies (GWAS) to demographic history to polygenic risk scores (PRS) and is expected to play an important role in the analyses of increasingly diverse ...
Julia Gimbernat-Mayol   +4 more
doaj   +1 more source

Population-Matched Transcriptome Prediction Increases TWAS Discovery and Replication Rate

open access: yesiScience, 2020
Summary: Most genome-wide association studies (GWAS) and transcriptome-wide association studies (TWAS) focus on European populations; however, these results cannot always be accurately applied to non-European populations due to genetic architecture ...
Elyse Geoffroy   +2 more
doaj   +1 more source

Pedigree Analysis: A Team-Based Learning Activity

open access: yesMedEdPORTAL, 2017
Introduction Regardless of their specialty, physicians, particularly those practicing primary care in rural areas, typically encounter genetic conditions.
Jack Thatcher   +3 more
doaj   +1 more source

Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions

open access: yesScientific Reports, 2022
Non-invasive prenatal testing (NIPT) to detect fetal aneuploidy by sequencing the cell-free DNA (cfDNA) in maternal plasma is being broadly adopted. To detect fetal aneuploidies from maternal plasma, where fetal DNA is mixed with far-larger amounts of ...
Giulio Genovese   +7 more
doaj   +1 more source

In silico characterization of coding and non-coding SNPs of the androgen receptor gene

open access: yesInformatics in Medicine Unlocked, 2021
The Androgen Receptor (AR), an important ligand-dependent nuclear transcription factor, encoded by the AR gene, functions in regulating the cell proliferation, migration, invasion, and apoptosis pathways. Single nucleotide polymorphisms (SNPs) of AR have
Maisha Adiba   +6 more
doaj   +1 more source

The Pennsylvania grotto sculpin: population genetics [PDF]

open access: yesSubterranean Biology, 2021
The Pennsylvania grotto sculpin is known from just two caves of the Nippenose Valley in central Pennsylvania, USA. They exhibit emergent troglobitic morphological traits and are the second northern-most cave adapted fish in the world.
Luis Espinasa   +2 more
doaj   +3 more sources

Sampling related individuals within ponds biases estimates of population structure in a pond‐breeding amphibian

open access: yesEcology and Evolution, 2019
Effective conservation and management of pond‐breeding amphibians depends on the accurate estimation of population structure, demographic parameters, and the influence of landscape features on breeding‐site connectivity.
Kyle A. O'Connell   +4 more
doaj   +1 more source

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