Genet Med · 2015

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

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee.

Show affiliations
  • Richards SDepartment of Molecular and Medical Genetics, Knight Diagnostic Laboratories, Oregon Health & Science University, Portland, Oregon, USA.
  • Aziz N1] College of American Pathologists, Chicago, Illinois, USA [2] Current affiliation: Phoenix Children's Hospital, Phoenix, Arizona, USA.
  • Bale SGeneDx, Gaithersburg, Maryland, USA.
  • Bick DDepartment of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
  • Das SDepartment of Human Genetics, Clinical Molecular Genetics Laboratory, The University of Chicago, Chicago, Illinois, USA.
  • Gastier-Foster J1] Cytogenetics/Molecular Genetics Laboratory, Nationwide Children's Hospital, Columbus, Ohio, USA [2] Department of Pathology, Ohio State University College of Medicine, Columbus, Ohio, USA [3] Department of Pediatrics, Ohio State University College of Medicine, Columbus, Ohio, USA.
  • Grody WW1] Department of Pathology and Laboratory Medicine, University of California Los Angeles School of Medicine, Los Angeles, California, USA [2] Department of Pediatrics, University of California Los Angeles School of Medicine, Los Angeles, California, USA [3] Department of Human Genetics, University of California Los Angeles School of Medicine, Los Angeles, California, USA.
  • Hegde MDepartment of Human Genetics, Emory Genetics Laboratory, Emory University, Atlanta, Georgia, USA.
  • Lyon EDepartment of Pathology, ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USA.
  • Spector EDepartment of Pediatrics, Molecular Genetics Laboratory, Children's Hospital Colorado, University of Colorado Anschutz Medical School, Denver, Colorado, USA.
  • Voelkerding KDepartment of Pathology, ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah, USA.
  • Rehm HLPartners Laboratory for Molecular Medicine and Department of Pathology, Brigham & Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
66 read5 want to readRigor 2.9Novelty 3.0Impact 2.9Reprod. 2.9

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0

Hugo Brown

Rigor 5/5Novelty 4/5Impact 1/5Reprod. 2/5

Nice but incremental.

0

Jonas Cohen

Rigor 1/5Novelty 3/5Impact 2/5Reprod. 5/5

Great figures and clear story.

0

Noor Patel

Rigor 3/5Novelty 3/5Impact 4/5Reprod. 1/5

Great figures and clear story.

0

Ravi Patel

Rigor 4/5Novelty 4/5Impact 4/5Reprod. 3/5

Solid methods, convincing results.

0

Sam Lee

Rigor 3/5Novelty 4/5Impact 3/5Reprod. 2/5

Replication is unclear to me.

0

Tariq Khan

Rigor 4/5Novelty 4/5Impact 2/5Reprod. 2/5

Replication is unclear to me.

0

Tariq Cohen

Rigor 4/5Novelty 5/5Impact 2/5Reprod. 1/5

Solid methods, convincing results.

0

Mei Nguyen

Rigor 3/5Novelty 1/5Impact 4/5Reprod. 5/5

Nice but incremental.

0

Omar Rossi

Rigor 3/5Novelty 3/5Impact 5/5Reprod. 1/5

Great figures and clear story.

0

Sam Kim

Rigor 2/5Novelty 5/5Impact 4/5Reprod. 3/5

Replication is unclear to me.

0

Ken Mueller

Rigor 4/5Novelty 3/5Impact 5/5Reprod. 4/5

Solid methods, convincing results.

0

Liam Mueller

Rigor 1/5Novelty 2/5Impact 1/5Reprod. 3/5

Important contribution to the field.

0

Tom Mueller

Rigor 2/5Novelty 2/5Impact 5/5Reprod. 1/5

Great figures and clear story.

0

Sara Patel

Rigor 4/5Novelty 1/5Impact 2/5Reprod. 2/5

Interesting idea, small sample.

0

Liam Patel

Rigor 3/5Novelty 1/5Impact 4/5Reprod. 4/5

Interesting idea, small sample.

0

Mei Patel

Rigor 3/5Novelty 2/5Impact 1/5Reprod. 5/5

Solid methods, convincing results.