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

Data from whole genome association studies can now be used for dual purposes, genotyping
and copy number detection. In this review we discuss some of the methods for using SNP …

The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments
in reciprocal social interaction and communication, and the presence of restricted and …

RNA sequencing using next-generation sequencing technologies (NGS) is currently the
standard approach for gene expression profiling, particularly for large-scale high-throughput …

Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the
known genetic risk has been traced to rare variants, principally copy number variants (CNVs). …

Hypoxia-inducible factor (HIF) regulates the major transcriptional cascade central to the
response of all mammalian cells to alterations in oxygen tension. Expression arrays indicate that …

… Camps, AL Harris, JM Gleadle, and J. Ragoussis are applicants on a patent submission
seeking to utilize miRNA expression as a prognostic marker in cancer. … J Natl Cancer Inst …

Hypoxia-inducible factor (HIF) controls an extensive range of adaptive responses to hypoxia.
To better understand this transcriptional cascade we performed genome-wide chromatin …

… For each aberration event given by the Viterbi algorithm, which spans a region from SNP
i to j with copy number k, we associate with that event a Bayes Factor BF given by, …

Background The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular
diagnosis. Methods We sequenced the genomes of six persons with autosomal dominant LOCA …