Characterisation of runs of homozygosity and inbreeding coefficients in the red-brown Korean native chickens [PDF]
Animal BioscienceObjective The analysis of runs of homozygosity (ROH) has been applied to assess the level of inbreeding and identify selection signatures in various livestock species.
John Kariuki Macharia +5 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 +39 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. +6 more
openaire +4 more sources
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages [PDF]
, 2017 Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. In
Abiri, Maryam +11 more
core +1 more source
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
Frontiers in Genetics, 2019 Recent studies of the genetic foundations of cognitive ability rely on large samples (in extreme, hundreds of thousands) of individuals from relatively outbred populations of mostly European ancestry.
Sergey A. Kornilov +9 more
doaj +1 more source
Genomic selection analysis of morphological and adaptation traits in Chinese indigenous dog breeds
Frontiers in Veterinary Science, 2023 The significant morphological differences and abundant germplasm resources of Chinese indigenous dog breeds can be attributed to the diverse geographical environment, including plateaus, mountains, and a long history of raising dogs.
Yangfeng Li +18 more
doaj +1 more source
Whole genome sequencing-based mapping and candidate identification of mutations from fixed zebrafish tissue [PDF]
, 2017 As forward genetic screens in zebrafish become more common, the number of mutants that cannot be identified by gross morphology or through transgenic approaches, such as many nervous system defects, has also increased.
Ackerman, Sarah D +8 more
core +3 more sources
Long Runs of Homozygosity Are Enriched for Deleterious Variation [PDF]
The American Journal of Human Genetics, 2013 Exome sequencing offers the potential to study the population-genomic variables that underlie patterns of deleterious variation. Runs of homozygosity (ROH) are long stretches of consecutive homozygous genotypes probably reflecting segments shared identically by descent as the result of processes such as consanguinity, population size reduction, and ...
Szpiech, Zachary A. +6 more
openaire +2 more sources
Frontiers in Animal Science, 2023 Selection decisions are generally based on estimated breeding values (EBV) for a combination of traits that are polygenic (e.g. milk production). However, in some cases, there is additional intense selection for a single allele, or SNP, for a perceived ...
Beth Anna Scott +8 more
doaj +1 more source