Unconventional Diagnosis Based on Somatic Findings through Germ Line Whole-Exome Sequencing

Clinical Chemistry Podcast

Molecular diagnostics is now firmly entrenched in laboratory medicine and the January 2020 issue of Clinical Chemistry is devoted to this topic. In that issue is a case report that presents an unconventional diagnosis based somatic findings through germline whole-exome sequencing. Joining us in this podcast is the lead author of that case report, Dr. Jaime Lopes, who is currently a fellow at the Genomics Laboratory in the Department of Laboratory Medicine and Pathology at the Mayo Clinic in Rochester, Minnesota.

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Molecular diagnostics is now firmly entrenched in laboratory medicine and the January 2020 issue of Clinical Chemistry is devoted to this topic. In that issue is a case report that presents an unconventional diagnosis based somatic findings through germline whole-exome sequencing. Joining us in this podcast is the lead author of that case report, Dr. Jaime Lopes, who is currently a fellow at the Genomics Laboratory in the Department of Laboratory Medicine and Pathology at the Mayo Clinic in Rochester, Minnesota.

2020-01-03 10 min
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