What I like about this study is that it studied GWAS and
candidate gene regions in careful investigations that included functional validation components.
Not exact matches
McCallion's strategy to make sense of all this data looks at the active
genes in cells affected by a disease, groups of
genes that interact with one another, their vulnerability to mutation and information from past scientific studies to filter more than a thousand
gene candidates for disease risk down to just a handful within any one implicated
region.
After
gene mapping we had several
candidate regions to choose but exome sequencing quickly identified the actual mutation.
The race was on, with the two teams probing for
candidate genes in that
region to determine which bore the APECED mutations.
However, further investigation revealed two
candidate genomic
regions that appeared to be involved, one of which contained the TGBF3
gene.
However, more studies are needed to dissect the role of the
candidate regions and
genes identified in selection
regions,» says Järvelä.
They found that the associated
regions contained numerous
candidate genes, among them
genes known to affect ear function, language development, memory, bird song and the brain's reward mechanism.
Another
candidate gene in this region is LIM domain only 3 (LMO3 [NCBI Entrez Gene 55885), a known oncogene located about 686 kb upstream from rs2965667 (eFigure 3 in the Suppleme
gene in this
region is LIM domain only 3 (LMO3 [NCBI Entrez
Gene 55885), a known oncogene located about 686 kb upstream from rs2965667 (eFigure 3 in the Suppleme
Gene 55885), a known oncogene located about 686 kb upstream from rs2965667 (eFigure 3 in the Supplement).
In their search for a culprit
gene, the researchers localized the
gene to a small
region of the genome, and then sequenced six
candidate genes, based on their roles in early brain development.
The availability of an annotated rabbit genome provides a good opportunity to access
candidate genes within differentiated
regions.
She is scanning the genomes of individuals in the current study to identify
regions that may contain additional
gene candidates.
Remarkably, 30
regions were each found to contain a single
gene, facilitating the identification of
candidate genes underlying reproductive isolation.
For the
candidate gene in the
region, RSPO3, we demonstrated expression in key liver - resident effector cells, such as human and murine cholangiocytes and human hepatic stellate cells.
Published
candidate ivermectin SOR
genes were largely absent in these
regions; QTLs differentiating GR and SOR worms were enriched for
genes in molecular pathways associated with neurotransmission, development, and stress responses.
Linking such regulatory
regions to
gene promoters in disease - relevant cell contexts facilitates identification of
candidate disease
genes.
Other than IGF1, all the other
regions will require fine - mapping in order to confirm a single
candidate gene.
Everts (2000) suggested a major
gene model for fragmented coronoid process, which is one form of a growth disorder in the elbow joint, but approximately 80 % of the dog genome was excluded as a
candidate region in a search of markers, under a hypothesis of a recessive inheritance.
Genomic
regions known to harbor CMS
candidate genes were screened for case allele frequencies of 1.0 and control allele frequencies of between 0.14 and 0.50.
Analysis of polymorphic microsatellites showed that the
regions flanking COLQ are IBD, whereas those flanking the other 2 identified
candidate genes are not.
In the absence of a population suitable for GWAS, we utilized genome - wide SNP profiles from a nuclear family to evaluate inheritance patterns in chromosomal
regions harboring all 18
candidate genes.
Allele frequencies in
regions on the 13 chromosomes harboring
candidate genes were evaluated for a pattern consistent with a recessive trait (Table S2).
A
candidate gene study of the androgen receptor
gene enabled the detection of three alleles in the trinucleotide (CAG) repeat
region in exon 1 in the Japanese Akita inu breed [100].