Items Tagged ‘whole exome sequencing’

March 9, 2017

Next generation sequencing – a game changer

By Sharon Rosen Sharon Rosen (@sharonhrosen)

Imagine scanning a page for errors manually one letter at a time, versus using a faster tool like spell check. That’s the difference between the first DNA sequencing methods and the new computerized machines known as next generation sequencing. It’s revolutionizing health care. Next generation sequencing technology enables geneticists to examine all of your 22,000 […]

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Tags: #Dr. Pavel Pichurin, #medical resarch, #neurological diseases, #Precision Mediicne, #rare diseases, #rare genetic diseases, #targeted panel testing, center for individualized medicine, Dr. Matthew Ferber, Genetic Testing, mayo clinic, next generation sequencing


February 23, 2017

Using genetic testing to transform care for neurological disorders

By Sharon Rosen Sharon Rosen (@sharonhrosen)

Our nervous system is made up of complex biological pathways that control everything we do, including breathing, thinking, speaking, moving and feeling. For patients suffering from a neurological disorder such as Parkinson’s disease, epilepsy, nerve pain (neuropathy) and dementia, the symptoms of these conditions can impact many aspects of daily life. Some patients with unexplained […]

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Tags: #Dr. Christopher Klein, #neurological diseases, #neurological disorders, #neurology, #targeted panel testing, #Tatiana Faroud, center for individualized medicine, DNA Testing, mayo clinic, Mayo Clinic Proceedings, whole exome sequencing, whole genome sequencing


January 27, 2017

Using genomics to target cancer therapy

By Sharon Rosen Sharon Rosen (@sharonhrosen)

One size does not fit all – especially when it comes to cancer treatment. We are each unique – with our own biological and genetic characteristics. Advances in genomic technology have led to the discovery that each type of cancer is also unique, with its own molecular characteristics. Researchers in the Mayo Clinic Center for […]

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Tags: #cancer therapy, #cancer treatment, #DNA analysis, #Genomic analysis, #Precision Mediicne, #targeted therapies, center for individualized medicine, Dr. Alan Bryce, mayo clinic, medical research, whole exome sequencing


November 16, 2016

Genetic Counselor Shares Insight into Growing Field at CIM Conference

By Sharon Rosen Sharon Rosen (@sharonhrosen)

Article by Rachel Guibert, Public Affairs Receiving results from genetic testing can elicit a variety of reactions. Patients often wait anxiously to get the answers they are seeking. Unfortunately, sometimes, medical tests lead to more questions than they answer. Genetic counselors are in a unique position to help patients navigate the often complex and confusing […]

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Tags: #CIMCon16, #GeneticCounseling, #PrecisionMedicine, #rare diseases, #Teressa Kruisselbrink, center for individualized medicine, Genetic Testing, individualized medicine, mayo clinic, whole exome sequencing


April 12, 2016

Center for Individualized Medicine Explores WGS, Diagnostic Exomes, PGx Analysis, Gene Panels

By Jeff Briggs Jeff Briggs (@JeffreyBriggs)

The Mayo Clinic Center for Individualized Medicine, or CIM as we like to say, has been rolling out genomic testing for its patients, integrating genomics into electronic medical records, and participating in clinical trials that focus on delivering personalized medicine. Keith Stewart, M.B., Ch.B., the Carlson and Nelson Endowed Director of the Center for Individualized […]

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Tags: Biobank, center for individualized medicine, diagnostic odyssey, Dr. Keith Stewart, gene panels, GenomeWeb, PGx, Pharmacogenetics, whole exome sequencing, whole genome sequencing


April 1, 2016

New Whole Exome Sequencing Plus Pharmacogenomics Test Now Available

By Jeff Briggs Jeff Briggs (@JeffreyBriggs)

  Regular visitors to the Center for Individualized Medicine blog know that whole exome sequencing and pharmacogenomics are frequent topics here.  Both are crucial elements in the Center’s commitment to and development of precision medicine.  Now we’re excited about bringing them together to provide patients with more individualized care and better answers to their health […]

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Tags: center for individualized medicine, Department of Clinical Genomics, DLMP, Dr. Konstantinos Lazaridis, Dr. Matthew Ferber, next generation sequencing, pharmacogenomics, Precision Medicine, whole exome sequencing, whole exome sequencing plus pharmacogenomics


March 11, 2016

RNA Sequencing Analysis for the Diagnosis of Oral Facial Digital Syndrome

By Jeff Briggs 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 7, 2016

Whole-Exome Sequencing: A Rational Approach for ‘Diagnostic Odyssey’ Patients

By Jeff Briggs Jeff Briggs (@JeffreyBriggs)

A new clinical study from the Mayo Clinic Center for Individualized Medicine shows that whole-exome sequencing (WES) could serve as a viable diagnostic approach for identifying rare inherited diseases and providing a resolution for patients on a diagnostic odyssey.  WES is a laboratory process that determines, all at once, the entire unique DNA sequence (i.e., […]

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Tags: center for individualized medicine, Dr. Konstantinos Lazaridis, Individualized Medicine Clinic, IndividualizedMedicine, Mayo Clinic Proceedings, Precision Medicine, whole exome sequencing


February 11, 2016

Next-Generation Sequencing: Targeted Panels Versus Whole Exome Sequencing

By Jeff Briggs Jeff Briggs (@JeffreyBriggs)

  Next-generation sequencing is becoming more prominent in the clinical laboratory, something we reported on recently on the Center for Individualized Medicine blog. With its unprecedented throughput, scalability, and speed, next-generation sequencing enables researchers to study biological systems at a level never before possible. Today’s complex genomic research questions demand a depth of information beyond […]

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Tags: center for individualized medicine, DNA, DNA Sequencing, Dr. Brian Dawson, Dr. Eric Klee, Dr. Matthew Ferber, gene sequencing, mayo medical laboratories, MML, next generation sequencing, whole exome sequencing


August 28, 2013

The Promise of Whole-Exome Sequencing

By AJ Montpetit AJ Montpetit (@ajmontpetit)

Until recently, polygenic (complex) diseases were beyond the capacity of first-generation sequencing, but next-generation sequencing (NGS) in making exploration of genetic etiology of complex diseases a possibility for the first time. NGS is a rapidly growing area of genomics and gene sequencing, and the rapid changes hold more promise for exome decoding than ever before. […]

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Tags: exome, Genome Sequencing, genomics, Individual Medicine, Individual Medicine Clinic, Konstantinos Lazaridis, sequencing, whole exome, whole exome sequencing, whole genome sequencing


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