Daily Archives: February 18, 2014

Richard III - The Whole Genome Sequence
The whole genome of King Richard III is to be sequenced in a project led by Dr Turi King of the Department of Genetics at the University of Leicester funded ...

By: UniversityLeicester

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Richard III - The Whole Genome Sequence - Video

Presentation from Large-Scale Genome Sequencing and Analysis Centers #39; Investigators - Richard Wilson
February 10, 2014 - National Advisory Council for Human Genome More: http://www.genome.gov/27556133.

By: GenomeTV

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Presentation from Large-Scale Genome Sequencing and Analysis Centers' Investigators - Richard Wilson - Video

Coding the Snail Genome: What little critters are teaching us about reproduction

By: Melissa Dawkins

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Coding the Snail Genome: What little critters are teaching us about reproduction - Video

Penn State University, The Genome Sciences Institute at the Huck - Pushing the Frontier
Understanding the function and evolution of genomes and the implications on how organisms live in their environments and thrive or get sick, requires a combi...

By: WebsEdgeEducation

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Penn State University, The Genome Sciences Institute at the Huck - Pushing the Frontier - Video

Now that genomes can be sequenced for $1,000, more patients can benefit, says Howard Jacob.

Howard Jacob

The quest for the $1,000 genome sequence began in December 2001 at the National Human Genome Research Institutes scientific retreat. That quest appears to have been completed with Illuminas January announcement of the HiSeqX Ten machine (see Illumina). Fifteen years after the first human genome was sequenced at a cost of $2.7 billion, we are at the dawn of a new era in medicine.

Many more genomes will now be sequenced, and they will be sequenced in much more detail. Today, because examining the whole genome has been so costly, most clinical and research labs look only at the exome, the roughly 1.5 percent of the genome associated with known functions. You might say that we are only looking where we understand. The ability to sequence the whole genome affordably will now generate an abundance of data and an opportunity to understand the importance of many more genetic variants. Sequencing the entire genome typically finds hundreds of times as much variation between any two individuals as just sequencing their exomes, most of it in regions of the genome that are poorly understood.

Learning the functions of those regions will help scientists better understand diseases, drug side effects, and the mechanisms by which the genome functions. Early efforts to use whole-genome sequencing in health care have produced promising results. In our clinic at the Medical College of Wisconsin and Childrens Hospital of Wisconsin, we have already used whole-genome sequencing to identify the causative variant, or mutation, in 26 percent of unexplained diseases we have taken on. The national rate of success without sequencing the genome is between 5 and 10 percent.

Being able to routinely use genome-wide sequencing in the clinic should make it possible to treat patients with an eye to their genetic predisposition toward specific diseases and their responsiveness to particular treatments. We already have evidence that this can improve success rates and reduce costs, which should make these technologies appealing to health insurers.

However, we arent there yet. More genomic data must be gathered and shared if we are to understand it well enough to affect clinical outcomes on a large scale. We must also remember that a genome sequence is only the first step; it must be followed up with genetic counseling and evidence-based care. Ethics must also be part of the discussion, because decisions about genomic screening affect generations to come. Now that the technology needed to deliver the $1,000 genome has arrived, we must determine the best way to use this information to save lives.

Howard Jacob is director of the Human and Molecular Genetics Center at the Medical College of Wisconsin.

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The $1,000 Genome Is Here

Discovery of skeleton lets scientists plan to sequence Richard IIIs genome

A year after they revealed that a twisted skeleton found under a parking lot was the remains of King Richard III, scientists in Britain plan to grind samples of his ancient bones and use them to map his genome.

(University of Leicester/AP) - The remains of Englands King Richard III, which were found in a dig in Leicester, England, in Sept. 2012.

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Scientists to map the genome of medieval English king Richard III