Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

@article{Richards2015StandardsAG,
  title={Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology},
  author={Sue Richards and Nazneen Aziz and Sherri J. Bale and David Bick and Soma Das and Julie M. Gastier-Foster and Wayne W. Grody and Madhuri Hegde and Elaine Lyon and Elaine Spector and Karl V. Voelkerding and Heidi L. Rehm},
  journal={Genetics in medicine : official journal of the American College of Medical Genetics},
  year={2015},
  volume={17},
  pages={405 - 424}
}
  • Sue Richards, Nazneen Aziz, H. Rehm
  • Published 5 March 2015
  • Medicine, Biology
  • Genetics in medicine : official journal of the American College of Medical Genetics
Disclaimer: These ACMG Standards and Guidelines were developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining… 
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