GARLIC: Genomic Autozygosity Regions Likelihood‐based Inference and Classification [PDF]
Bioinformatics, 2017 Abstract Summary Runs of homozygosity (ROH) are important genomic features that manifest when identical-by-descent haplotypes are inherited from parents. Their length distributions and genomic locations are informative about population history and they are useful for mapping recessive loci ...
Zachary A. Szpiech +2 more
semanticscholar +3 more sources
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy. [PDF]
, 2015 Inherited retinal dystrophies present extensive phenotypic and genetic heterogeneity, posing a challenge for patients' molecular and clinical diagnoses.
Avila-Fernandez, A. +10 more
core +2 more sources
Genome-wide autozygosity is associated with lower general cognitive ability [PDF]
Molecular Psychiatry, 2015 Inbreeding depression refers to lower fitness among offspring of genetic relatives. This reduced fitness is caused by the inheritance of two identical chromosomal segments (autozygosity) across the genome, which may expose the effects of (partially) recessive deleterious mutations.
Howrigan, D P +46 more
openaire +6 more sources
A global disorder of imprinting in the human female germ line [PDF]
, 2002 Imprinted genes are expressed differently depending on whether they are carried by a chromosome of maternal or paternal origin. Correct imprinting is established by germline-specific modifications; failure of this process underlies several inherited ...
A Kerjean +30 more
core +1 more source
Bioinform., 2016 Summary: Runs of homozygosity (RoHs) are genomic stretches of a diploid genome that show identical alleles on both chromosomes. Longer RoHs are unlikely to have arisen by chance but are likely to denote autozygosity, whereby both copies of the genome ...
Vagheesh M. Narasimhan +5 more
semanticscholar +1 more source
Runs of homozygosity for autozygosity estimation and genomic analysis in production animals [PDF]
Pesquisa Agropecuária Brasileira, 2018 : Runs of homozygosity (ROHs) are long stretches of homozygous genomic segments, identifiable by molecular markers, which can provide genomic information for accurate estimates to characterize populations, determine evolutionary history and demographic ...
Arnaldo Basso Rebelato +1 more
doaj +3 more sources
Synteny analysis in Rosids with a walnut physical map reveals slow genome evolution in long-lived woody perennials. [PDF]
, 2015 BackgroundMutations often accompany DNA replication. Since there may be fewer cell cycles per year in the germlines of long-lived than short-lived angiosperms, the genomes of long-lived angiosperms may be diverging more slowly than those of short-lived ...
Aradhya, Mallikarjuna +9 more
core +2 more sources
Pedigree and marker information requirements to monitor genetic variability
Genetics Selection Evolution, 2003 There are several measures available to describe the genetic variability of populations. The average inbreeding coefficient of a population based on pedigree information is a frequently chosen option.
Johann Sölkner, Roswitha Baumung
doaj +1 more source
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. [PDF]
, 2015 BackgroundCohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with ...
Ali, Ghazanfar +29 more
core +2 more sources
Genomic inbreeding estimation in small populations: Evaluation of runs of homozygosity in three local dairy cattle breeds [PDF]
, 2016 In the local breeds with small population size, one of the most important problems is the increase of inbreeding coefficient (F). High levels of inbreeding lead to reduced genetic diversity and inbreeding depression.
DI GERLANDO, Rosalia +5 more
core +2 more sources