Results 1 to 10 of about 1,325,954 (330)

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

Nature Communications, 2021
A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21077-8.
Qingbo Wang, Emma Pierce-Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier, Andrew J. Hill, Anne H. O’Donnell-Luria, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Konrad J. Karczewski, Daniel G. MacArthur   +11 more
doaj   +1 more source

Rewriting Human History and Empowering Indigenous Communities with Genome Editing Tools. [PDF]

, 2020
Appropriate empirical-based evidence and detailed theoretical considerations should be used for evolutionary explanations of phenotypic variation observed in the field of human population genetics (especially Indigenous populations). Investigators within
Fox, Keolu, Komor, Alexis C, Rallapalli, Kartik Lakshmi   +2 more
core   +2 more sources

The population genetics of dN/dS. [PDF]

PLoS 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

Archetypal Analysis for population genetics.

PLoS 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, Albert Dominguez Mantes, Carlos D Bustamante, Daniel Mas Montserrat, Alexander G Ioannidis   +4 more
doaj   +1 more source

Information-Geometric Optimization with Natural Selection

Entropy, 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, Colin H. LaMont, Armita Nourmohammad   +2 more
doaj   +1 more source

Population-Matched Transcriptome Prediction Increases TWAS Discovery and Replication Rate

iScience, 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, Isabelle Gregga, Heather E. Wheeler   +2 more
doaj   +1 more source

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

Scientific 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, Curtis J. Mello, Po-Ru Loh, Robert E. Handsaker, Seva Kashin, Christopher W. Whelan, Lucy A. Bayer-Zwirello, Steven A. McCarroll   +7 more
doaj   +1 more source

Pedigree Analysis: A Team-Based Learning Activity

MedEdPORTAL, 2017
Introduction Regardless of their specialty, physicians, particularly those practicing primary care in rural areas, typically encounter genetic conditions.
Jack Thatcher, Patty Canfield, Laurie Bauer, Brian N. Griffith   +3 more
doaj   +1 more source

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

Informatics 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, Tonmoy Das, Anik Paul, Ashish Das, Sajib Chakraborty, Md Ismail Hosen, A.H.M. Nurun Nabi   +6 more
doaj   +1 more source

The nk model and population genetics [PDF]

, 2005
The nk model of fitness interactions is examined. This model has been used by previous authors to investigate the effects of fitness epistasis on substitution dynamics in molecular evolution, and to make broader claims about the importance of epistasis ...
Barton, Barton, Bergman, Burch, Coyne, Edmands, Elena, Elena, Felsenstein, Fisher, Fitch, Fontana, Fraser, Gavrilets, Gillespie, Gillespie, Gillespie, Gillespie, Gumbel, Hansen, Hartl, Jeong, Kauffman, Kauffman, Kauffman, Kichler Holder, Kimura, Kimura, Kondrashov, Korona, Lenski, Macken, Mani, Maynard Smith, Moore, Ohta, Ohta, Ohta, Ohta, Orr, Orr, Orr, Peck, Perelson, Phillips, Provine, Schrag, Solow, Stephan, Tachida, Tachida, Weinberger, Welch, Whitlock, Zeng   +54 more
core   +2 more sources