ACMG clinical laboratory standards for next-generation sequencing

Genetics in Medicine

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Siddharth Srivastava, Jamie A. Love-Nichols et al. 2019-06-10 · Read paper → Genetics in Medicine

BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors

Andrew Lee, Nasim Mavaddat et al. 2019-01-09 · Read paper → Genetics in Medicine

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Roddy Walsh, Kate L. Thomson et al. 2016-08-17 · Read paper → Genetics in Medicine

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

Keith Nykamp, Michael J. Anderson et al. 2017-05-11 · Read paper → Genetics in Medicine

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

C. Sue Richards, Sherri J. Bale et al. 2008-04-01 · Read paper → Genetics in Medicine

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Eric Legius, Ludwine M. Messiaen et al. 2021-06-04 · Read paper → Genetics in Medicine

The genetic landscape of Alzheimer disease: clinical implications and perspectives

Caroline Van Cauwenberghe, Christine Van Broeckhoven, Kristel Sleegers 2015-08-27 · Read paper → Genetics in Medicine

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

Glenn E. Palomaki, Edward M. Kloza et al. 2011-10-15 · Read paper → Genetics in Medicine

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

Hutton M. Kearney, Erik C. Thorland et al. 2011-06-16 · Read paper → Genetics in Medicine

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola et al. 2015-12-03 · Read paper → Genetics in Medicine

Prader-Willi syndrome

Suzanne B. Cassidy, Stuart H. Schwartz et al. 2012-01-01 · Read paper → Genetics in Medicine

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

Sarah S. Kalia, Kathy Adelman et al. 2016-11-17 · Read paper →