Sequencing Study Highlights Genetic Diversity in Southern Africa

February 17, 2010

American, African, and Australian researchers reported today that the have sequenced the complete genomes of two individuals from southern Africa, one of whom is Archbishop Desmond Tutu, and the exomes of three others.

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Papers of Note

KCTD13 a Driver of Neurodevelopmental Phenotypes Associated with the 16p11.2 CNV
Golzio, Willer et al., Nature
An international team led by investigators at Duke University shows that KCTD13 "is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 CNV [copy-number variant]," a finding that it says substantiates "the idea that one or a small number of transcripts within a CNV can underpin clinical phenotypes, and offer an efficient route to identifying dosage-sensitive loci."

Approach to Reduce Allelic Bias in RNA-seq Read-Mapping
Satya, Zavaljevski, and Reifman, Nucleic Acids Research
Researchers at the US Department of Defense Biotechnology High Performance Computing Software Applications Institute present an approach to reduce allelic bias in RNA-seq read-mapping based on the "construction of an enhanced reference genome that includes the alternative alleles at known polymorphic loci." In this paper, the team shows that "mapping to this enhanced reference reduced the read-mapping biases, leading to more reliable estimates of ASE [allele-specific expression]."
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IntegenX has appointed David Smith to serve as its new COO. Smith most recently served as CFO of Thoratec, and previous to that was CFO at Chiron. He currently is chair of the audit committee and a director of OncoGenex Pharmaceuticals and previously was chair of the audit committee and a director of Perlegen Sciences.

Vermillion said this week that President and CEO Gail Page will be leaving the company by September and the firm has begun the process to find her successor. Page also has resigned her seat on the board of directors, and effective immediately Vermillion amended its bylaws to eliminate the vacant seat, reducing its board from seven to six members.

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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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Sequencing Study Highlights Genetic Diversity in Southern Africa

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