1000 Genomes Project provides functional insights on genetic variation - (Wednesday, October 2, 2013)
"The critical lesson in a number of recent studies including this one is that when the number of genomes included in a study increases to a few thousands, we can better refine the frequency of different gene copies (alleles), particularly those that are rare," said Dr. Richard Gibbs, director of the BCM Human Genome Sequencing Center and the local principal investigator for this study. "This factor predominantly increases our discovery power for disease mutations and highlights the defining value of the large-scale sequencing efforts where a few of sequencing centers collaborate and take on major challenges like the 1000 Genomes and the TCGA."
Whole exome sequencing takes new technology into the clinic - (Tuesday, October 1, 2013)
"This is a good example of translating the knowledge and technology developed through the Human Genome Project into clinical medicine available to physicians worldwide," said Dr. Richard Gibbs, director of the BCM Human Genome Sequencing Center and another author of the report. "This program may enhance the way we make future discoveries in genetic medicine. Depending on an individual’s results, he or she may have the opportunity to participate in research studies that are expanding knowledge and will eventually be useful back in the clinic."