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Episodes

Date Title & Description Contributors
2015-12-09

  How to Talk to an Exome Skeptic

Clinical exome sequencing is becoming more widely adopted every day.  Based on the evidence offered hospitals, professional organizations, and even insurance companies are adopting and/or supporting the clinical exome for themselves.  How might you con...
  Ambry Genetics author
2015-10-20

  Keeping Track of Emerging Phenotypes and Evaluating for New Ones; ChaD and EMBo

Analysis for ExomeNext takes place in two steps.  In step 1, we look at genes in which mutations have already been associated with disease in humans.  In step 2, we look at genes which have not been associated with human disease.  How do we keep track ...
  Ambry Genetics author
2015-09-24

  Ordering Your First Exome

Christian Gund, genetic counselor at Ambry, interviews Megan Tucker, formerly a senior genetic counselor at St. Vincent Health in Indianapolis and current Program Director at Indiana State University. In this episode, Christian and Megan discuss the pr...
  Ambry Genetics author
2015-08-11

  A New Wave for Hereditary Breast and Ovarian Cancer

This webinar reviews recent literature and Ambry data that change how we understand and define hereditary breast and ovarian cancer. In addition, the Mauli Ola Foundation announces its 2nd annual "Battle for the Breasts" awareness event. This online su...
  Ambry Genetics author
2015-05-04

  Finding answers and sharing data: Ambry’s contributions to exome literature

Christian Gund, genetic counselor at Ambry, gives a follow up to our previous Podcast where we discussed Ambry’s cohort paper on Exome Sequencing. In this episode, Christian gives an overview of other papers that Ambry has published since starting Exom...
  Ambry Genetics author
2015-04-07

  Analyzing Historical Mutations in the CFTR gene...

In this 1 hour Webinar, we will review Cystic fibrosis, as well as an in depth summary of variant classification as it relates to CFTR. Kendra Waller, Genetic Counselor at Ambry Genetics, reviews classical symptoms of CF, as well as CFTR related disor...
  Ambry Genetics author
2015-04-07

  Getting to the Heart of the Matter: An Overview of Cardiovascular Genetics

A summary of cardiovascular genetics designed to provide genetic professionals with some of the necessary tools for offering cardio genetic counseling and testing. Our speaker Amy Sturm is a Genetic Counselor at the Division of Human Genetics at Ohio ...
  Ambry Genetics author
2015-04-07

  The Utilization of Exome Sequencing in Pediatric and Neonatal Clinical Settings

As diagnostic clinical exome sequencing becomes more accessible and affordable, it’s clinical applications are undoubtedly expanding. This 1-hour* presentation will focus on providing clinicians with an overview of Ambry’s ExomeNext and ExomeNext-Rapid...
  Ambry Genetics author
2015-04-07

  The Basics of Inborn Errors of Metabolism: A Clinical and Diagnostic Perspective

This webinar presents an overview of the basics of inborn errors of metabolism from a clinical perspective. Our speaker, Dr. Samantha Vergano, is the Division Director of Medical Genetics and Metabolism at the Children’s Hospital of King’s Daughters in...
  Ambry Genetics author
2015-04-07

  The Clinical and Management Implications of Diagnostic Exome Sequencing

In the hour, we explore the post diagnostic implications of whole exome sequencing as it pertains to clinical practice with some eye opening data from our two speakers Julie Cohen and Dr. Alejandro Iglesias. Julie is a Genetic Counselor at Kennedy Krei...
  Ambry Genetics author