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

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

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...

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Bibliographic Details
Main Authors: Julia El Mecky, Lennart Johansson, Mirjam Plantinga, Angela Fenwick, Anneke Lucassen, Trijnie Dijkhuizen, Annemieke van der Hout, Kate Lyle, Irene van Langen
Format: Article
Language:English
Published: BMC 2019-11-01
Series:BMC Medical Genomics
Subjects:
Reinterpretation
Reclassification
Genetics
Laboratory
Focus group
Online Access:https://doi.org/10.1186/s12920-019-0612-6

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