A PEDIGREE SHOWING SOME RARE Rh GENOTYPES

A Pedigree of Mental Defect Showing Sex-linkage.

The Rh genotypes and Fisher's theory.

Efficient Inference of Haplotypes from Genotypes on a Pedigree

We study haplotype reconstruction under the Mendelian law of inheritance and the minimum recombination principle on pedigree data. We prove that the problem of finding a minimum-recombinant haplotype configuration (MRHC) is in general NP-hard. This is the first complexity result concerning the problem to our knowledge. An iterative algorithm based on blocks of consecutive resolved marker loci (...

Do rare variant genotypes predict common variant genotypes?

The synthetic association hypothesis proposes that common genetic variants detectable in genome-wide association studies may reflect the net phenotypic effect of multiple rare polymorphisms distributed broadly within the focal gene rather than, as often assumed, the effect of common functional variants in high linkage disequilibrium with the focal marker. In a recent study, Dickson and colleagu...

Fragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardation.

A pedigree showing the fragile site at Xq27 in a severely retarded female and in other less retarded carriers is described. Two of the four moderately retarded males with the fra(X)(q27) show macro-orchidism, and a variety of other features usually used to support the effects of the fra(X)(q27) are also inconsistent. A second fragile site at (10)(q23) is also present and in the two oldest femal...