The past few years have seen enormous advances in genoty** technology, including
chips that accommodate in excess of 1 million SNP assays. In addition, the cost per …

The intent of this chapter is to provide the reader with a review of GeneChip technology and
the complete system it represents, including its versatility, components, and the exciting …

There is increasing evidence that genome-wide association (GWA) studies represent a
powerful approach to the identification of genes involved in common human diseases. We …

Oligonucleotide probe arrays have enabled massively parallel analysis of gene expression
levels from a single cDNA sample. Application of microarray technology to analyzing …

Motivation: A classification algorithm, based on a multi-chip, multi-SNP approach is
proposed for Affymetrix SNP arrays. Current procedures for calling genotypes on SNP arrays …

In most microarray technologies, a number of critical steps are required to convert raw
intensity measurements into the data relied upon by data analysts, biologists, and clinicians …

Action myoclonus-renal failure syndrome (AMRF) is an autosomal-recessive disorder with
the remarkable combination of focal glomerulosclerosis, frequently with glomerular collapse …

Methods for haploty** and DNA copy-number ty** of single cells are paramount for
studying genomic heterogeneity and enabling genetic diagnosis. Before analyzing the DNA …

Motivation: Large-scale genoty** relies on the use of unsupervised automated calling
algorithms to assign genotypes to hybridization data. A number of such calling algorithms …

Osteoporosis, a highly heritable disease, is characterized mainly by low bone-mineral
density (BMD), poor bone geometry, and/or osteoporotic fractures (OF). Copy-number …