Background Methods for haplotyping and DNA copynumber typing of single cells are paramount for studying genomic heterogeneity and enabling genetic diagnosis. Before analyzing the DNA of a single cell by microarray or next-generation sequencing, a whole-genome amplification (WGA) process is required, but it substantially distorts the frequency and composition of the cell’s alleles. As a conseque...

A case of mosaic Turner's syndrome with a 45,X/46,XX/47,XXX karyotype, who was also a fragile X obligate carrier as the mother of an affected boy, was identified by molecular diagnosis. Complete haplotyping and direct DNA analysis showed that the X chromosome in all metaphases was the normal X. At the age of 57, she is mentally normal. Her external appearance was typical of Turner's syndrome. T...

YK-extended-abstract-FINAL 2 Evidence from investigations of genetic differences among humans shows that genetic diseases are sometimes the result of genetic mutations that occur in more than one percent of a population (variations). The most common of these variations are single nucleotide polymorphisms (SNPs). A complete map of all SNPs in the human genome will be extremely valuable for study...

Multi-Objective Combinatorial Optimization (MOCO) problems find a wide range of practical application problems, some of which involving Boolean variables and constraints. This paper develops and evaluates algorithms for solving MOCO problems, defined on Boolean domains, and where the optimality criterion is lexicographic. The proposed algorithms build on existing algorithms for either Maximum S...

Haplotypes, combinations of several phase-determined polymorphic markers, are extremely valuable for studies of disease association and chromosome evolution. Here we describe a technique called M1-PCR (M for "multiplex" and 1 for "single-copy DNA molecules") that enables direct molecular haplotyping of several polymorphic markers separated by as many as 24 kb. A genomic DNA sample first is dilu...