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The transcriptome and proteome change dynamically as cells respond to environmental stress; however, prior proteomic studies reported poor correlation between mRNA and protein, rendering their relationships unclear. To address this, we combined high mass accuracy mass spectrometry with isobaric tagging to quantify dynamic changes in ~2500 Saccharomyces(More)
Primary autosomal recessive microcephaly (MCPH) is a genetically heterogeneous condition characterized by congenital microcephaly and intellectual disability. To date, 10 MCPH loci have been identified and due to the genetic heterogeneity of this condition, molecular testing for MCPH can be complicated. Our methods involved employing a next generation(More)
Determining the underlying regulatory mechanism of genetic networks is one of the central challenges of computational biology. Numerous methods have been developed and applied to the important but complex task of reverse engineering regulatory networks from high-throughput gene expression data. However, many challenges remain. In this paper, we are(More)
Advances in DNA sequencing have made large, diagnostic gene panels affordable and efficient. Broad adoption of such panels has begun to deliver on the promises of personalized medicine, but has also brought new challenges such as the presence of unexpected results, or results of uncertain clinical significance. Genetic analysis of inherited cardiac(More)
i To Mom, for making this dream possible, Ian, for supporting and sharing it and Lillian for making it all worthwhile. ii ABSTRACT In this era where healthcare is one of the world's largest and fastest growing industries, there is great interest in understanding what is happening within our cells and organs at the molecular level. Fortunately, innovations(More)
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