GENOMIC VARIABILITY AMONG CATTLE POPULATIONS BASED ON RUNS OF HOMOZYGOSITY [PDF]
Poljoprivreda, 2015 In this work, the distribution of different lengths ROH (runs of homozygosity) in six cattle breeds was described. A total of 122 animals from six cattle breeds (Holstein, Simmental, Austrian Pinzgau, Ayrshire, MRI-Meuse Rhine Issel and Slovak Pinzgau ...
Veronika Šidlová +5 more
doaj +1 more source
ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]
, 2018 Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal +18 more
core +1 more source
The evaluation of genomic diversity and selection signals in the autochthonous Slovak Spotted cattle
Czech Journal of Animal Science, 2021 The aim of this study was to evaluate the effective population size based on linkage disequilibrium and the trend of inbreeding derived from runs of homozygosity (ROH) in the Slovak Spotted cattle.
Radovan Kasarda +8 more
doaj +1 more source
Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36 [PDF]
, 2001 Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of Parkinson’s disease plus spasticity, supranuclear upgaze paresis, and dementia.
Al-Din, A. +7 more
core +2 more sources
bioRxiv, 2022 We hypothesized that overall autozygosity is decreasing over generational time. In this report, we present data that partially support this hypothesis from three large cohorts of diverse ancestries, two from the US (All of Us and the Million Veteran ...
S. Colbert +7 more
semanticscholar +1 more source
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
Fine-scale analysis of six beef cattle breeds revealed patterns of their genomic diversity
Italian Journal of Animal Science, 2020 There has been a significant decrease in genetic diversity on a global scale for several livestock species, including beef cattle. Therefore, the aim of this study was to deliver fine-scale analysis of the genomic structure and to describe the diversity ...
Radovan Kasarda +12 more
doaj +1 more source
Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data. [PDF]
, 2015 Autozygosity mapping is a powerful technique for the identification of rare, autosomal recessive, disease-causing genes. The ease with which this category of disease gene can be identified has greatly increased through the availability of genome-wide SNP
Alkuraya +18 more
core +1 more source
Extensive genome-wide autozygosity in the population isolates of Daghestan [PDF]
European Journal of Human Genetics, 2015 Isolated populations are valuable resources for mapping disease genes, as inbreeding increases genome-wide homozygosity and enhances the ability to map disease alleles on a genetically uniform background within a relatively homogenous environment.
Tatiana M, Karafet +8 more
openaire +2 more sources
Genome-wide signatures of population bottlenecks and diversifying selection in European wolves [PDF]
, 2013 Genomic resources developed for domesticated species provide powerful tools for studying the evolutionary history of their wild relatives. Here we use 61K single-nucleotide polymorphisms (SNPs) evenly spaced throughout the canine nuclear genome to ...
Greco, C. +8 more
core +1 more source