Items Tagged ‘American College of Medical Genetics and Genomics’

March 11, 2016

RNA Sequencing Analysis for the Diagnosis of Oral Facial Digital Syndrome

By Jeff Briggs Jeff Briggs

Whole-exome sequencing has become an extremely valuable tool in the diagnoses of rare diseases, of which 80 percent can have an underlying genetic cause. Earlier this week we ran the story of a study from the Center for Individualized Medicine that recommended whole-exome sequencing as a viable option in diagnostic odyssey cases of rare diseases. […]

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Tags: ACMG, American College of Medical Genetics and Genomics, center for individualized medicine, Dr. Nicole Boczek, Oral-facial-digital syndrome, RNA sequencing, WES, whole exome sequencing


March 9, 2016

Pharmacogenomics: RIGHT Protocol

By Jeff Briggs Jeff Briggs

Faithful readers of the Center for Individualized Medicine blog will remember when a little more than a month ago, we posted the Pharmacogenomics Primer. In the primer, we mention there‚Äôs a mantra here in the Pharmacogenomics Program: the right drug, at the right dose, at the right time. Now, we can just call it the […]

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Tags: ACMG, American College of Medical Genetics and Genomics, center for individualized medicine, Dr. Janet Olson, pharmacogenomics, RIGHT Protocol


April 1, 2014

ACMG Updates Recommendation on “Opt Out” for Genome Sequencing Return of Results

By Center for Individualized Medicine Center for Individualized Medicine

  Today’s Press Release From ACMG   BETHESDA, Md., APRIL 1, 2014 — /PRNewswire-USNewswire/ — There has been significant discussion surrounding the initial ACMG recommendations for the return of results from genome-scale sequencing issued in March of 2013. The ACMG Board of Directors has listened carefully to the members’ views and appreciates the many forums […]

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Tags: ACMG, American College of Medical Genetics and Genomics, dna test, DNA Testing, gene sequencing, genome science, genomic medicine, genomics, Incidental Findings, individualized medicine, personal genomics, personalized medicine


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