The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Caio Robledo D' Angioli Costa QuaioJosé Ricardo Magliocco CeroniMichele Araújo PereiraAnne Caroline Barbosa TeixeiraRenata Yoshiko YamadaVívian Pedigone CintraEduardo PerroneMarina De FrançaKelin ChenRenata Moldenhauer MinilloCheysa Arielly BiondoMariana Rezende Bandeira de MelloLais Rodrigues MouraAmanda Thamires Batista do NascimentoKarla de Oliveira PelegrinoLarissa Barbosa de LimaLuiza do Amaral VirmondCarolina Araujo MorenoJoana Rosa Marques ProtaJessica Grasiela de Araujo EspolaorThiago Yoshinaga Tonholo SilvaGabriel Hideki Izuka MoraesGustavo Santos de OliveiraLivia Maria Silva MouraMarcel Pinheiro CaracioloRafael Lucas Muniz GuedesMichel Chieregato GretschischkinPedro Lui Nigro ChazanasCarolina Naomi Izo NakamuraRodrigo de Souza ReisCarmen Melo ToledoFernanda Stussi Duarte LageGiovanna Bloise de AlmeidaJosé Bandeira do Nascimento JúniorMilena Andreuzo CardosoVictor de Paula AzevedoTatiana Ferreira de AlmeidaMurilo Castro CervatoJoão Bosco de Oliveira FilhoPublished in: Human genomics (2023)
The development of an internal consensus and standards for constitutional sequence variant classification, specifically adapted to the Brazilian population, further contributes to the continuous refinement of variant classification practices. The aim of these efforts from the workgroup is to enhance the reliability and uniformity of variant classification.