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BACKGROUND Genetic testing for long-QT syndrome (LQTS) has diagnostic, prognostic, and therapeutic implications. Hundreds of causative mutations in 12 known LQTS-susceptibility genes have been identified. Genetic testing that includes the 3 most commonly mutated genes is available clinically. Distinguishing pathogenic mutations from innocuous rare variants(More)
OBJECTIVE Clozapine is considered to be the most efficacious drug to treat schizophrenia, although it is underutilized, partially due to a side effect of agranulocytosis. This analysis of 74 candidate genes was designed to identify an association between sequence variants and clozapine-induced agranulocytosis (CIA). METHOD Blood and medical history were(More)
We have investigated the level of DNA-based variation (both SNPs and haplotypes) for several thousand human genes. In addition, we have characterized how this variation is distributed in a number of biologically and clinically important ways. First, we have determined how SNPs are distributed within human genes: where they occur relative to various(More)
A phylogeny is a tree graph representation of genealogical relationships between biological objects. It is of general interest to estimate the phylogeny of whole organisms (species trees) using bio-molecular sequences. When multiple sequences are available for each organism such as with whole genome data, individual phylogenies estimated by each molecule(More)
Identification of relatives using SNP markers has many possible applications. One is as a route to tracing a food product such as a cut of meat back to its source of origin by identifying the parents of the animal from which the product was derived. We develop methods for using SNP markers with maximum likelihood, allowing for the possibility of genotyping(More)
Genetic testing, which is now a routine part of clinical practice and disease management protocols, is often based on the assessment of small panels of variants or genes. On the other hand, continuous improvements in the speed and per-base costs of sequencing have now made whole exome sequencing (WES) and whole genome sequencing (WGS) viable strategies for(More)
Phylogenetics has a long history, with many contributions to the field actually predating Darwin. Genomics, in contrast, is barely a decade old. While these two fields may be disparate in their ages, each has much to contribute to the further development of the other. Phylogenetics provides a rich source of methodologies able to facilitate and enhance(More)
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