New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

Marielle van Gijn (1) , Isabella Ceccherini (2) , Yael Shinar (3) , Ellen Carbo (1) , Mariska Slofstra (4) , Juan Arostegui (5) , Guillaume Sarrabay (6) , Dorota Rowczenio (7) , Ebun Omoyimni (7) , Banu Balci-Peynircioglu (8) , Hal Hoffman (9) , Florian Milhavet (6) , Morris Swertz (4) , Isabelle Touitou (10, 6)

1 University Medical Center [Utrecht]
2 Giannina Gaslini Institute
3 Chaim Sheba Medical Center
4 UMCG - University Medical Center Groningen [Groningen]
5 Clinical Institute of Neuroscience, Hospital Clinic, University of Barcelona, IDIBAPS, CIBERSAM, Barcelona, Catalonia, Spain.
6 Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB)
7 UCL - University College of London [London]
8 Faculty of Medicine [Hacettepe University]
9 UC San Diego - University of California [San Diego]
10 CHU Montpellier

Domaines: Sciences du Vivant [q-bio]

Marielle van Gijn, Isabella Ceccherini, Yael Shinar, Ellen Carbo, Mariska Slofstra, et al.. New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID). Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2017-105216⟩. ⟨hal-01846891⟩