Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients

• Published in: American journal of medical genetics. Part C, Seminars in medical genetics Vol. 187; no. 3; pp. 364 - 372
• Main Authors: Quaio, Caio Robledo D'Angioli Costa, Chung, Christine Hsiaoyun, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Moreira, Caroline Monaco, Filho, Gil Monteiro Novo, Sacramento‐Bobotis, Patricia Rossi, Penna, Michele Groenner, Souza, Rafaela Rogerio Floriano, Cintra, Vivian Pedigone, Carnavalli, Juliana Emilia Prior, Silva, Rafael Alves, Paixão, Daniele, Baratela, Wagner Antonio da Rosa, Olivati, Caroline, Spolador, Gustavo Marquezani, Santos, Monize Nakamoto Provisor, Pintao, Maria Carolina, Fornari, Alexandre Ricardo dos Santos, Burger, Matheus, Ramalho, Rodrigo Fernandes, Pereira, Otavio Jose Eulalio, Ferreira, Elisa Napolitano, Mitne‐Neto, Miguel, Kim, Chong Ae
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.09.2021; Wiley Subscription Services, Inc
• Subjects: Autosomal recessive inheritance; carrier; Carrier frequencies; carrier frequency; Developing countries; Disabilities; Epidemiology; Epilepsy; Genes; Genetic screening; Genetics; Health policy; Hearing loss; Hereditary diseases; Heredity; Intellectual disabilities; LDCs; Mathematical analysis; Metabolic disorders; next‐generation sequencing; Optimization; Panels; Patients; Rare diseases; recessive Mendelian diseases; whole exome sequencing; Brazil

Several Mendelian disorders follow an autosomal recessive inheritance pattern. Epidemiological information on many inherited disorders may be useful to guide health policies for rare diseases, but it is often inadequate, particularly in developing countries. We aimed to calculate the carrier frequen...