Results 211 to 220 of about 7,051 (240)

Interlaboratory performance testing on EPIC v2.0 CNS tumor profiling demonstrates high reproducibility of tumor classification but reveals the need for harmonized copy number variation reporting

open access: yesBrain Pathology, EarlyView.
Using the Infinium MethylationEPIC v2.0 array and Heidelberg Brain Tumor Classifier v12.8, 24 international laboratories achieved highly reproducible CNS tumor classification (97.9% correct; median β‐correlation r = 0.99), while copy number variation interpretation showed substantial interlaboratory variability, highlighting the need for harmonized CNV
Katrin Mauch‐Mücke   +50 more
wiley   +1 more source

Effect of genotyping density on the detection of runs of homozygosity and heterozygosity in cattle. [PDF]

open access: yesJ Anim Sci
Falchi L   +6 more
europepmc   +1 more source

Deleterious phenotypes in wild Arabidopsis arenosa populations are common and linked to runs of homozygosity. [PDF]

open access: yesG3 (Bethesda)
Barragan AC   +9 more
europepmc   +1 more source

Estimates of Autozygosity Through Runs of Homozygosity in Farmed Coho Salmon [PDF]

open access: yesGenes, 2020
Abstract The characterization of runs of homozygosity (ROH), using high-density single nucleotide polymorphisms (SNPs) allows inferences to be made about the past demographic history of animal populations and the genomic ROH has become a common approach to characterize the inbreeding.
JOSÉ Manuel Yanez   +2 more
exaly   +4 more sources

No evidence for excess runs of homozygosity in bipolar disorder

Psychiatric Genetics, 2009
Recent studies have reported large common regions of homozygosity (ROHs) that are the result of autozygosity, that is, the cooccurrence within individuals of long haplotypes that have a high frequency in the population. A recent study reports that such regions are found more commonly in individuals with schizophrenia compared with controls, and ...
Anna E, Vine   +10 more
openaire   +2 more sources

Runs of homozygosity: current knowledge and applications in livestock

Animal Genetics, 2016
SummaryThis review presents a broader approach to the implementation and study of runs of homozygosity (ROH) in animal populations, focusing on identifying and characterizing ROH and their practical implications. ROH are continuous homozygous segments that are common in individuals and populations.
E, Peripolli   +5 more
openaire   +2 more sources

Joint Estimates of Heterozygosity and Runs of Homozygosity for Modern and Ancient Samples [PDF]

open access: yesGenetics, 2019
Abstract Both the total amount and the distribution of heterozygous sites within individual genomes are informative about the genetic diversity of the population they belong to. Detecting true heterozygous sites in ancient genomes is complicated by the generally limited coverage achieved and the presence of post-mortem damage inflating ...
Thorfinn Sand Korneliussen   +2 more
exaly   +6 more sources

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