BACKGROUND Haplotypes can increase the power of gene detection over genotypes and are essential to estimate linkage disequilibrium. METHODS Haplotyping was based on the minimum recombinant paradigm, whereby a phase is obtained only if it uniquely minimises the number of recombinants within a full sib family. Performance of this method was tested across three different data sets, consisting of...

Haplotype data is valuable in mapping disease-susceptibility genes in the study of Mendelian and complex diseases. We present algorithms for inferring a most likely haplotype configuration for general pedigrees, implemented in the newest version of the genetic linkage analysis system SUPERLINK. In SUPERLINK, genetic linkage analysis problems are represented internally using Bayesian networks. T...

Haplotyping via perfect phylogeny is a method for retrieving haplotypes from genotypes. Fast algorithms are known for computing perfect phylogenies from complete and error-free input instances—these instances can be organized as a genotype matrix whose rows are the genotypes and whose columns are the single nucleotide polymorphisms under consideration. Unfortunately, in the more realistic setti...

1Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Vavilov Str. 32, Moscow 119991, Russia 2Cancer Research Center Lyon, INSERM U1052 and CNRS 5286, Lyon University, 69003 Lyon, France 3DevWeCan Laboratories of Excellence Network (Labex), Lyon, France 4Riga Stradins University, Riga LV-1007, Latvia 5Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, ...

Duchenne Muscular Dystrophy (DMD) is an X-linked neuromuscular disorder in which the detection of female carriers is of the utmost importance for genetic counseling. Haplotyping with polymorphic markers and quantitation of creatine kinase levels (CK) allow tracking of the at-risk haplotype and evidence muscle damage, respectively. Such approaches are useful for carrier detection in cases of unk...

Background: Quantitative fluorescence-polymerase chain reaction (QF-PCR) is an inexpensive and accurate method for the prenatal diagnosis of aneuploidies that applies short tandem repeats (STRs) as a chromosome-specific marker. Despite its apparent advantages, QF-PCR is not applicable in all cases due to the presence of uninformative STRs. This study was carried out to investigate the efficienc...