Results 51 to 60 of about 15,343 (276)
Journal of Dairy Science: Homozygosity, which can arise from several genetic mechanisms including inbreeding, is frequently observed in the offspring of related parents. This inbreeding can lead to a reduced performance, owing to a phenomenon known as inbreeding depression ...
B.A. Scott +5 more
doaj +1 more source
Genetics of consanguinity and inbreeding in health and disease
Annals of Human Biology, 2017 Context: Inbreeding increases the level of homozygotes for autosomal recessive disorders and is the major objective in clinical studies. The prevalence of consanguinity and the degree of inbreeding vary from one population to another depending on ...
Mohd Fareed, Mohammad Afzal
doaj +1 more source
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization [PDF]
, 2017 Background: Whole genome and exome sequencing are contributing to the extraordinary progress in the study of human genetic variants. In this fast developing field, appropriate and easily accessible tools are required to facilitate data analysis. Results:
ANGLANI, FRANCA +14 more
core +3 more sources
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test [PDF]
, 2018 : Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of the 1960s. We developed a rapid and simple molecular test for the most frequent phenylalanine hydroxylase (PAH, Gene ID: 5053) mutations.
Antonio Angeloni +9 more
core +1 more source
GENOMIC BACKGROUND OF ENTROPION IN FLECKVIEH CATTLE [PDF]
Poljoprivreda, 2015 Runs of homozygosity (ROH) and genome wide association study (GWAS) were used to identify genomic regions of entropion in Austrian Fleckvieh cattle. Entropion is an eye disorder where the eye lids turn inward, causing inflammations, cornea damage or even
Gábor Mészáros +3 more
doaj +1 more source
Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission [PDF]
, 2015 Defects of mitochondrial dynamics are emerging causes of neurological disease. In two children presenting with severe neurological deterioration following viral infection we identified a novel homozygous STAT2 mutation, c.1836C4A (p.Cys612Ter), using ...
Anderson, G +14 more
core +1 more source
Consanguinity Rates Predict Long Runs of Homozygosity in Jewish Populations [PDF]
Human Heredity, 2016 <b><i>Objectives:</i></b> Recent studies have highlighted the potential of analyses of genomic sharing to produce insight into the demographic processes affecting human populations. We study runs of homozygosity (ROH) in 18 Jewish populations, examining these groups in relation to 123 non-Jewish populations sampled worldwide ...
Jonathan T L, Kang +4 more
openaire +2 more sources
Inbreeding depression affecting stayability in Italian Holstein cows
Journal of Dairy Science: Advances in selection and reproduction methods, particularly the implementation of genomic evaluations alongside assisted reproductive technologies, have substantially enhanced productivity and efficiency, notably within specialized dairy cattle ...
J.C.C. Panetto +12 more
doaj +1 more source
Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity. [PDF]
, 2019 Runs 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 ...
Burchard, Esteban G +6 more
core
The bracteatus pineapple genome and domestication of clonally propagated crops [PDF]
, 2019 Domestication of clonally propagated crops such as pineapple from South America was hypothesized to be a 'one-step operation'. We sequenced the genome of Ananas comosus var.
Alonge, Michael +44 more
core +5 more sources