Skip to search formSkip to main contentSkip to account menu
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…
TLDR
Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends thatclinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments–approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent.
View on Nature
Technical Standards and Guidelines: Molecular Genetic Testing for Ultra-Rare Disorders
TLDR
In determining the propriety of any specific procedure or test, the clinical molecular geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.
View on Nature
Effect of vitamins and aspirin on markers of platelet activation, oxidative stress and homocysteine in people at high risk of dementia
Abstract. VITAL Trial Collaborative Group. Effect of vitamins and aspirin on markers of platelet activation, oxidative stress and homocysteine in people at high risk of dementia. J Intern Med 2003;…
View on Wiley
Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics.
TLDR
The availability and scope of PT/EQA for molecular genetic testing for inherited conditions in Europe, Australasia, and the United States is reviewed to evaluate the successes and demonstrated value and to examine the challenges to the provision of comprehensive PT/ EQA posed by new laboratory practices and methodologies.
View on PubMed
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
TLDR
This update of the ACMG technical standards for CFTR variant testing reflects changes in the available technologies and the limited phenotypic knowledge of rare variants.
View on Springer
How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010
TLDR
The third Human Variome Project (HVP) Meeting “Integration and Implementation” was held under UNESCO Patronage in Paris, France, at the UNESCO Headquarters May 10–14, 2010, and addressed the 12 key areas that form the current framework of HVP activities.
View on Wiley
CORRIGENDUM: Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics…
TLDR
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
View on Nature
Optimisation of a dedicated microarray system
TLDR
Some of the parameters that have to be optimised in order to achieve good quality, meaningful microarray data include various slide substrates, pin design, hybridisation systems and reading of arrayed slides.
View on Nature
Sequence data analysis and the clinical genomics database
View via Publisher
Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN).
View on PubMed
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License