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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…
- Sue Richards, Nazneen Aziz, H. Rehm
- Medicine, BiologyGenetics in Medicine
- 5 March 2015
TLDR
Single nucleotide polymorphisms in the human interleukin-1B gene affect transcription according to haplotype context.
- Hongmin Chen, L. Wilkins, G. Duff
- BiologyHuman molecular genetics
- 15 February 2006
TLDR
College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.
- Nazneen Aziz, Qin Zhao, K. Voelkerding
- BiologyArchives of pathology & laboratory medicine
- 1 April 2015
TLDR
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.
- I. Schrijver, Nazneen Aziz, Jane S. Gibson
- Biology, MedicineThe Journal of molecular diagnostics : JMD
- 1 November 2012
Methods-based proficiency testing in molecular genetic pathology.
- I. Schrijver, Nazneen Aziz, L. Jennings, C. Richards, K. Voelkerding, K. Weck
- BiologyThe Journal of molecular diagnostics : JMD
- 1 May 2014
A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults
- M. Murray, James P Evans, M. Khoury
- BiologyNAM Perspectives
- 3 December 2018
TLDR
Radiographic severity of knee osteoarthritis is conditional on interleukin 1 receptor antagonist gene variations
- M. Attur, Hwa-Ying Wang, K. Kornman
- Medicine, BiologyAnnals of the rheumatic diseases
- 23 November 2009
TLDR
Good laboratory practice for clinical next-generation sequencing informatics pipelines
TLDR
A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health
- M. Khoury, W. G. Feero, G. Mensah
- MedicinePLoS medicine
- 1 August 2018
TLDR
Demographic differences in the utilization of clinical and direct-to-consumer genetic testing.
- Nikki M. Carroll, Erica Blum-Barnett, A. Burnett-Hartman
- MedicineJournal of genetic counseling
- 20 November 2019
TLDR
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