Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

• Main Authors: Julia El Mecky (Author), Lennart Johansson (Author), Mirjam Plantinga (Author), Angela Fenwick (Author), Anneke Lucassen (Author), Trijnie Dijkhuizen (Author), Annemieke van der Hout (Author), Kate Lyle (Author), Irene van Langen (Author)
• Format: Book
• Published: BMC, 2019-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background In recent years, the amount of genomic data produced in clinical genetics services has increased significantly due to the advent of next-generation sequencing. This influx of genomic information leads to continuous changes in knowledge on how genetic variants relate to hereditary...