scholarly journals Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

2021 ◽  
Author(s):  
Patrick R. Gonzales ◽  
Erica F. Andersen ◽  
Teneille R. Brown ◽  
Vanessa L. Horner ◽  
Juli Horwitz ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Medical Genetics ◽  
Technical Standard ◽  
Genetics And Genomics ◽  
Regions Of Homozygosity

scholarly journals Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

2018 ◽  
Vol 20 (7) ◽  
pp. 683-691 ◽  
Author(s):  
Renata C Gallagher ◽  
◽  
Laura Pollard ◽  
Anna I Scott ◽  
Suzette Huguenin ◽  
...  
Keyword(s):  
Organic Acids ◽  
Medical Genetics ◽  
Laboratory Analysis ◽  
Technical Standard ◽  
Genetics And Genomics

scholarly journals Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

2018 ◽  
Vol 20 (12) ◽  
pp. 1499-1507 ◽  
Author(s):  
J. Daniel Sharer ◽  
◽  
Irene De Biase ◽  
Dietrich Matern ◽  
Sarah Young ◽  
...  
Keyword(s):  
Amino Acids ◽  
Medical Genetics ◽  
Laboratory Analysis ◽  
Technical Standard ◽  
Genetics And Genomics

scholarly journals Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

2019 ◽  
Vol 22 (3) ◽  
pp. 453-461 ◽  
Author(s):  
Lora J. H. Bean ◽  
◽  
Birgit Funke ◽  
Colleen M. Carlston ◽  
Jennifer L. Gannon ◽  
...  
Keyword(s):  
Gene Sequencing ◽  
Medical Genetics ◽  
Technical Standard ◽  
Genetics And Genomics
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