Pacific Biosciences Uses ISMB Conference to Generate Interest in its Bioinformatics Tools

July 16, 2010

At the conference, PacBio launched its developer network, and its scientists presented several research papers discussing alignment algorithms used to map sequence data generated on Pac Bio’s single-molecule real-time sequencer.

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Young Investigator Profile

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Assistant Professor
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Bacterial Pathogenesis

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Papers of Note

Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.

Genetic Data for Modern Genetic Breeds 'Have Yet to Shed Light on Dog Origins'
Larson, Karlsson et al., PNAS
A team led by researchers at the University of Durham investigate the value of modern genetic data to elucidate the origins of dog domestication by analyzing 49,024 autosomal SNPs in 19 wolves and 1,375 dogs, representing 35 breeds. The team reports having uncovered conflicting evidence when correlating the earliest archeological dogs with the geographic locations of 14 breeds thought to be ancient. "These genetically distinct ancient breeds only appear so because of their relative isolation, suggesting that studies of modern breeds have yet to shed light on dog origins," the authors write.
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EMBL

Evidence for Clinical Utility of Molecular Diagnostics in Oncology: A Workshop
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Institute of Medicine

Abstract & Registration Deadlines

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Science
A study published in Science Translational Medicine suggests high-throughput sequencing is effective for finding post-treatment leukemia cells that can lead to patient relapse. Researchers used sequencing to test matched pre- and post-chemotherapy samples from 43 individuals with T-lineage acute lymphoblastic leukemia. They found that the sequencing method tracked down minimal residual disease in 25 of the cases tested, including several missed by flow cytometry.
Business
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Funding
The National Institute on Aging will provide up to $6 million in 2013 to support up to three projects undertaking whole exome and/or whole genome sequencing data analysis to identify genomic contributions to both the risk for and protection against Alzheimer's disease. The funding program is part of the Presidential Initiative on Alzheimer's Disease and is expected to fund between one and three awards with up to $2 million direct cost per award for fiscal year 2013.
Genome Technology Magazine
For this month's Q&A, Matthew Dublin speaks with McGill University's John Breitner about a European consortium that aims to develop molecular diagnostics for both Alzheimer's and Parkinson's disease. As part of the program, Breitner is developing standardized ways to describe patient samples as a first step in bringing innovations to the clinic. Breitner says that there are a number of biomarkers than can confirm or deny a presumptive diagnosis, but there is not yet a standard way to run tests based on such markers.

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Pacific Biosciences Uses ISMB Conference to Generate Interest in its Bioinformatics Tools

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