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The deletion, concerned with an in-frame deletion of 5 amino acid residues in a highly evolutionarily conserved region within the cytoplasmic loop domain of the gap junction channel protein connexin 50 (Cx50), was in full cosegregation with the cataract phenotypes in the family but not found in 1100 control exomes.
These core elements include, but are not limited to (i) locus, disease-specific, commercially and publicly available databases; (ii) peer-reviewed literature that reports clinical, cosegregation, and functional studies; (iii) prediction algorithms; and (iv) information derived from our internal testing experience.
Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy.
40, 41) When analyzing exome or genome sequences within a family unit, variant prioritization typically takes into account variant cosegregation within the family, based on affected versus unaffected family members.
For familial cases linkage was confirmed by checking the cosegregation of the marker alleles with the disease phenotype and the haplotypes were constructed for each family demonstrating linkage by identifying the ancestral chromosomes.
Asymmetric division and cosegregation of template DNA strands in adult muscle satellite cells.
A cosegregation analysis of zinc (Zn) accumulation and Zn tolerance in the Zn hyperaccumulator Thlaspi caerulescens.
Microsomal codeine N-demethylation: cosegregation with cytochrome P4503A4 activity.
Lichter PR, Richards JE, Downs CA, Stringham HM, Boehnke M, Farley FA (1997) Cosegregation of open-angle glaucoma and the nail-patella syndrome.
As expected, cosegregation analysis of the mutations revealed that each parent was a carrier of one alteration.
All SGI ROTAV strains were associated with the P[6] or P[4] genotype, and all SGII ROTAV strains were associated with P[8], demonstrating a gene-dependent cosegregation pattern.
To identify the causative gene locus, cosegregation and homozygosity mapping with markers that are known to be linked with WH/hypotrichosis phenotype was carried out.