Both variants are heterozygous in eight FH2-carriers and homozygous for the reference allele in all other sequenced Fleckvieh animals. Moreover, both variants are homozygous for the reference allele in 1007 non-Fleckvieh animals that have been sequenced for the 1000 bull genomes project [2]. ...
The variant with allele frequencies > 0.01 were excluded. We focused on loss-of-function variants including stop gain/loss, frameshift insertion/deletion, splicing within two base pairs, and potentially deleterious missense variants that were predicted to be deleterious by two of the three tools...
Inherited skeletal disorders affect both humans and animals. In the current study, we have performed series of clinical, pathological and genetic examinations to characterize a previously unreported skeletal disease in the Karelian Bear Dog (KBD) breed.
All exonic non-synonymous variants including splice sites which potentially change the protein were taken into account (other intronic and UTR mutations were eliminated). Finally the remaining SNVs and INDELs of the index patient were checked for the three modes of inheritance: Autosomal dominant (...
Genetic variants were annotated and filtered using ANNOVAR [11] based on genomic positions and minor allele frequencies below 0.005 in the 1000 Genomes Project, ExAC, gnomAD, and ESP6500. Additionally, variants outside of exonic sequences and synonymous alterations were disregarded. The remaining non...
The invention provides methods of analyzing a nucleic acid in a target sample for variant alleles. In such methods, a first-labelled control sample and a second-labelled target sample are hybridized to at least one set of probes. The control sample comprises a homozygous reference allele. The ...
Although the incidence of the neurohepatopathy by MPV17 mutations in the western Navajo Reservation is relatively frequent (1 in 1,600 live birth), a few non-Navajo patients have been investigated [8, 9]. The presentation of NNH revealed multi-systemic disorder, and the patients with classical...
Sections were processed for nonradioactive in situ hybridization. The RNA probes complementary to mouse diap1 (bases 3062–3861 of the mouse diap1 cDNA, NM_007858.2) and human DIAPH1 (bases 2241–3960 of the human DIAPH1 cDNA, NM_005219.4) were labeled with digoxigenin- 11-UTP. Sections ...
This variant has an allele frequency of 2.9% in the Belgian Malinois population, but is not found in closely related dog breeds or in dog breeds where similar symptoms have been already described. The canine phenotype is remarkably similar to humans, including ataxia and seizures. In addition, ...
SNP genotyping data were used for linkage analysis via easyLINKAGE v.5.08, assuming a trait allele frequency of 0.0001. GeneHunter v2.1r5 was used to calculate multipoint parametric LOD scores throughout the genome, as well as to construct haplotypes.4 Parental consanguinity prompted us to assume...