Items Tagged ‘ACMG’

March 11th, 2016

RNA Sequencing Analysis for the Diagnosis of Oral Facial Digital Syndrome

By Jeff Briggs JeffreyBriggs

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 9th, 2016

Pharmacogenomics: RIGHT Protocol

By Jeff Briggs JeffreyBriggs

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’s 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 1st, 2014

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

By Center for Individualized Medicine samuelsmith5209

  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


March 27th, 2014

ACMG Annual Clinical Genetics Meeting 2014 Schedule

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This year at the ACMG Annual Clinical Genetics Meeting, Richard Sharp, Ph.D., director of the Bioethics Program in the Mayo Clinic Center for Individualized Medicine, will participate on Saturday, March 30, in a panel discussion entitled “Duty to Recontact” in the Genomics Era: Interdisciplinary Perspectives and Open Forum. “Duty to Recontact” addresses providers’ obligations to […]

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Tags: ACMG, Annual Clinical Genetics Meeting, center for individualized medicine, dna test, DNA Testing, gene sequencing, genome science, genomic medicine, genomics, individualized medicine, Institute of Medicine, mayo clinic


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