Results 21 to 30 of about 1,176,096 (345)

ON THE FINDABILITY OF GENOTYPES [PDF]

open access: yesEvolution, 2013
Can we define a measure that describes how easy or difficult it is for a population to evolve to a specific genotype? For populations evolving under weak mutation on a time-invariant fitness landscape, I argue that one appropriate measure is the expected waiting time, starting from equilibrium, for a population to become fixed for a given genotype ...
David M. McCandlish, David M. McCandlish
openaire   +3 more sources

Genetic Analysis of the Single-Nucleotide Polymorphisms rs880810, rs545793, rs80094639, and rs13251901 in Nonsyndromic Oral Clefts: A Case–Parent Trio Study

open access: yesGlobal Medical Genetics, 2023
Oral clefts, including cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), are the most common types of congenital anomalies of the human face. Various genetic and environmental factors play a role in developing oral clefts.
Mahamad Irfanulla Khan   +4 more
doaj   +1 more source

Maternal Transmission of the PAX7 Single Nucleotide Polymorphisms among Indian Cleft Trios

open access: yesGlobal Medical Genetics, 2023
Cleft lip and/or cleft palate (CL/P) is one of the most common congenital anomalies of the human face with a complex etiology involving multiple genetic and environmental factors. Several studies have shown the association of the paired box 7 (PAX7) gene
Mahamad Irfanulla Khan   +3 more
doaj   +1 more source

A framework for variation discovery and genotyping using next-generation DNA sequencing data

open access: yesNature Genetics, 2011
Recent advances in sequencing technology make it possible to comprehensively catalog genetic variation in population samples, creating a foundation for understanding human disease, ancestry and evolution.
M. DePristo   +17 more
semanticscholar   +1 more source

Effect of genotypes for growth hormone gene in Awassi ewes on milk production and components [PDF]

open access: yesMesopotamia Journal of Agriculture, 2023
This study was conducted in the Department of Animal Production/College of Agriculture and Forestry/University of Mosul from 3/4/2022 to 3/2/2023, by using forty Awassi ewes aged between 3-5 years and with an average weight of (42 kg).
Haitham Hadi   +2 more
doaj   +1 more source

Multicenter Outbreak of Infections by Saprochaete clavata, an Unrecognized Opportunistic Fungal Pathogen

open access: yesmBio, 2014
Rapidly fatal cases of invasive fungal infections due to a fungus later identified as Saprochaete clavata were reported in France in May 2012. The objectives of this study were to determine the clonal relatedness of the isolates and to investigate ...
Sophie Vaux   +8 more
doaj   +1 more source

Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1

open access: yesStem Cell Research, 2018
The human induced pluripotent stem cell (hiPSC) line, derived from dermal fibroblasts from Leber congenital amaurosis patient with homozygous mutation c.265 T > C, p.Cys89Arg in aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) was generated ...
Dunja Lukovic   +6 more
doaj   +1 more source

A Robust, Simple Genotyping-by-Sequencing (GBS) Approach for High Diversity Species

open access: yesPLoS ONE, 2011
Advances in next generation technologies have driven the costs of DNA sequencing down to the point that genotyping-by-sequencing (GBS) is now feasible for high diversity, large genome species.
Robert J. Elshire   +6 more
semanticscholar   +1 more source

Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing

open access: yesGenome Biology, 2019
Background Structural variations (SVs) or copy number variations (CNVs) greatly impact the functions of the genes encoded in the genome and are responsible for diverse human diseases.
Shunichi Kosugi   +5 more
doaj   +1 more source

Double Digest RADseq: An Inexpensive Method for De Novo SNP Discovery and Genotyping in Model and Non-Model Species

open access: yesPLoS ONE, 2012
The ability to efficiently and accurately determine genotypes is a keystone technology in modern genetics, crucial to studies ranging from clinical diagnostics, to genotype-phenotype association, to reconstruction of ancestry and the detection of ...
Brant Peterson   +4 more
semanticscholar   +1 more source

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