Genetics in Medicine Open (Jan 2023)
P539: Fostering a common language in clinical genomics: MANE Select as a universal standard to report clinical variants
- Shashikant Pujar,
- Jane Loveland,
- Alex Astashyn,
- Ruth Bennett,
- Andrew Berry,
- Eric Cox,
- Claire Davidson,
- Olga Ermolaeva,
- Catherine Farrell,
- Reham Fatima,
- Tamara Goldfarb,
- Jose Gonzalez,
- Diana Haddad,
- Matthew Hardy,
- Toby Hunt,
- John Jackson,
- Vinita Joardar,
- Michael Kay,
- Vamsi Kodali,
- Kelly McGarvey,
- Jonathan Mudge,
- Michael Murphy,
- Sanjida Rangwala,
- Françoise Thibaud-Nissen,
- Anjana Vatsan,
- Wallin Craig,
- Webb David,
- Adam Frankish,
- Fiona Cunningham,
- Terence Murphy
Affiliations
- Shashikant Pujar
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Jane Loveland
- European Bioinformatics Institute, Hinxton, Cambridge, UK
- Alex Astashyn
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Ruth Bennett
- European Bioinformatics Institute, Hinxton, Cambridge, UK
- Andrew Berry
- European Bioinformatics Institute, Hinxton, Cambridge, UK
- Eric Cox
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Claire Davidson
- European Bioinformatics Institute, Hinxton, Cambridge, UK
- Olga Ermolaeva
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Catherine Farrell
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Reham Fatima
- European Bioinformatics Institute, Hinxton, Cambridge, UK
- Tamara Goldfarb
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Jose Gonzalez
- European Bioinformatics Institute, Hinxton, Cambridge, UK
- Diana Haddad
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Matthew Hardy
- European Bioinformatics Institute, Hinxton, Cambridge, UK
- Toby Hunt
- European Bioinformatics Institute, Hinxton, Cambridge, UK
- John Jackson
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Vinita Joardar
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Michael Kay
- European Bioinformatics Institute, Hinxton, Cambridge, UK
- Vamsi Kodali
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Kelly McGarvey
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Jonathan Mudge
- European Bioinformatics Institute, Hinxton, Cambridge, UK
- Michael Murphy
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Sanjida Rangwala
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Françoise Thibaud-Nissen
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Anjana Vatsan
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Wallin Craig
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Webb David
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Adam Frankish
- European Bioinformatics Institute, Hinxton, Cambridge, UK
- Fiona Cunningham
- European Bioinformatics Institute, Hinxton, Cambridge, UK
- Terence Murphy
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD
- Journal volume & issue
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Vol. 1,
no. 1
p. 100586