Fostering a common language in clinical genomics: MANE Select as a universal standard to report clinical variants
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Presenting Author - SHASHIKANT PUJAR, PhD; Co-Author - Jane E. Loveland, PhD; Co-Author - Alex Astashyn, MS; Co-Author - Ruth Bennett, BSc; Co-Author - Andrew Berry, PhD; Co-Author - Eric Cox, PhD; Co-Author - Claire Davidson, MSc; Co-Author - Olga Ermolaeva, MS; Co-Author - Catherine M. Farrell, PhD; Co-Author - Reham Fatima, BSc; Co-Author - Tamara Goldfarb, PhD; Co-Author - Jose M. Gonzalez, PhD; Co-Author - Diana Haddad, PhD; Co-Author - Matthew Hardy, BSc; Co-Author - Toby Hunt, PhD; Co-Author - John Jackson, PhD; Co-Author - Vinita S. Joardar, PhD; Co-Author - Michael Kay, BSc; Co-Author - Vamsi K. Kodali, PhD; Co-Author - Kelly M. McGarvey, PhD; Co-Author - Jonathan M. Mudge, PhD; Co-Author - Michael R. Murphy, PhD; Co-Author - Sanjida H. Rangwala, PhD; Co-Author - Françoise Thibaud-Nissen, PhD; Co-Author - Anjana Vatsan, PhD; Co-Author - Wallin Craig, MS; Co-Author - Webb David, PhD; Co-Author - Adam Frankish, PhD; Co-Author - Fiona Cunningham, PhD; Co-Author - Terence D. Murphy, PhD;
Meta Tag
Bioinformatics
Databases
Genetic Testing
Variant Detection
Co-Author Jane E. Loveland, PhD
Co-Author Alex Astashyn, MS
Co-Author Ruth Bennett, BSc
Co-Author Andrew Berry, PhD
Co-Author Eric Cox, PhD
Co-Author Claire Davidson, MSc
Co-Author Olga Ermolaeva, MS
Co-Author Catherine M. Farrell, PhD
Co-Author Reham Fatima, BSc
Co-Author Tamara Goldfarb, PhD
Co-Author Jose M. Gonzalez, PhD
Co-Author Diana Haddad, PhD
Co-Author Matthew Hardy, BSc
Co-Author Toby Hunt, PhD
Co-Author John Jackson, PhD
Co-Author Vinita S. Joardar, PhD
Co-Author Michael Kay, BSc
Co-Author Vamsi K. Kodali, PhD
Co-Author Kelly M. McGarvey, PhD
Co-Author Jonathan M. Mudge, PhD
Co-Author Michael R. Murphy, PhD
Co-Author Sanjida H. Rangwala, PhD
Co-Author Françoise Thibaud-Nissen, PhD
Co-Author Anjana Vatsan, PhD
Co-Author Wallin Craig, MS
Co-Author Webb David, PhD
Co-Author Adam Frankish, PhD
Co-Author Fiona Cunningham, PhD
Co-Author Terence D. Murphy, PhD
Presenting Author SHASHIKANT PUJAR, PhD
Keywords
clinical genomics
universal standard
MANE
MANE Select
clinical variants
transcripts
diagnosis
genomic resources
protein-coding genes
interoperability

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