Results 31 to 40 of about 15,343 (276)

Visualization of Runs of Homozygosity and Classification Using Convolutional Neural Networks. [PDF]

Biology (Basel)
Runs of homozygosity (ROH) are key elements of the genetic structure of populations, reflecting inbreeding levels, selection history, and potential associations with phenotypic traits. This study proposes a novel approach to ROH analysis through visualization and classification using convolutional neural networks (CNNs).
Bakoev S, Kolosova M, Romanets T, Bakoev F, Kolosov A, Romanets E, Korobeinikova A, Bakoeva I, Akhmedli V, Getmantseva L.   +9 more
europepmc   +4 more sources

Relationships between estimated autozygosity and complex traits in the UK Biobank [PDF]

, 2018
Inbreeding increases the risk of certain Mendelian disorders in humans but may also reduce fitness through its effects on complex traits and diseases. Such inbreeding depression is thought to occur due to increased homozygosity at causal variants that ...
Evans, Luke M, Johnson, Emma C, Keller, Matthew C   +2 more
core   +5 more sources

Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity [PDF]

The American Journal of Human Genetics, 2018
AbstractRuns of homozygosity (ROH) are important genomic features that manifest when an individual inherits two haplotypes that are identical-by-descent. Their length distributions are informative about population history, and their genomic locations are useful for mapping recessive loci contributing to both Mendelian and complex disease risk.
Szpiech, Zachary A., Mak, Angel C.Y., White, Marquitta J., Hu, Donglei, Eng, Celeste, Burchard, Esteban G., Hernandez, Ryan D.   +6 more
openaire   +4 more sources

Estimation of inbreeding in Ethiopia goats using runs of homozygosity

Acta Fytotechnica et Zootechnica, 2017
This study was carried out to estimate the inbreeding levels in Abergelle, Gumuz, Keffa and Woytoguji goats in Ethiopia from genomic information. A total of 161 animals (53 Abergelle, 39 Gumuz, 31 Keffa and 38 Woytoguji) were genotyped using the Illumina
Wilson Nandolo , Maria Wurzinger, Gábor Mészáros et al.   +2 more
doaj   +1 more source

Genomic signatures of population decline in the malaria mosquito Anopheles gambiae [PDF]

, 2016
Population genomic features such as nucleotide diversity and linkage disequilibrium are expected to be strongly shaped by changes in population size, and might therefore be useful for monitoring the success of a control campaign.
A De, AD Stump, Austin Burt, CG Nevill, Charles Mbogo, D Bachtrog, EA Okiro, F Tajima, F Tajima, Franklin Mosha, G McVean, GA Watterson, H Li, H Li, H Li, Janet Midega, JH Gillespie, JK Pritchard, JM Mwangangi, K Tamura, K Thornton, KA Lindblade, M Kirin, M Pombi, MN Bayoh, NJ Govella, P Andolfatto, PC Kipyab, PP Chaki, PR Haddrill, RF Daniels, RN Gutenkunst, RR Hudson, S Schiffels, Samantha M. O’Loughlin, SC Nkhoma, SM O’Loughlin, Stephen M. Magesa, TL Russell, WG Hill   +39 more
core   +5 more sources

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. [PDF]

, 2015
Purpose3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay ...
Barshop, Bruce A, Baumgartner, Matthias R, Frazer, Kelly A, Hansen, John-Bjarne, Jepsen, Kristen, Shepard, Peter J, Smith, Erin N   +6 more
core   +1 more source

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

Nature Communications, 2021
Homozygosity mapping is a useful tool for identifying candidate mutations in recessive conditions, however application to next generation sequencing data has been sub-optimal.
Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Ana Berta Sousa, Luisa Coutinho Santos, Andrea Superti-Furga, Carlo Rivolta   +15 more
doaj   +1 more source

The effects of runs-of-homozygosity on pig domestication and breeding. [PDF]

BMC Genomics
Since their domestication, recent inbreeding together with intensive artificial selection and population bottlenecks have allowed the prevalence of deleterious mutations and the increase of runs-of-homozygosity (ROH) in domestic pigs. This makes pigs a good model to understand the genetic underpinnings of inbreeding depression.Here we integrated a ...
Tao L, Liu H, Adeola AC, Xie HB, Feng ST, Zhang YP.   +5 more
europepmc   +4 more sources

Invited review: Bioinformatic methods to discover the likely causal variant of a new autosomal recessive genetic condition using genome-wide data [PDF]

, 2018
In animals, new autosomal recessive genetic diseases (ARGD) arise all the time due to the regular, random mutations that occur during meiosis. In order to reduce the effect of any damaging new variant, it is necessary to find its cause.
Pollott, G E
core   +2 more sources

Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome [PDF]

, 2016
Runs of homozygosity for Lundehund specific regions in 500-SNP windows. The chromosomal position of ROH regions, number of SNPs in these regions (n), size in base pairs (size_bp), canine genes (gene) and human orthologues (human gene) are shown. (XLSX 88
Julia Metzger, Ottmar Distl, Sophia Pfahler   +2 more
core   +8 more sources