Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals

Author:

Naslavsky Michel S.123ORCID,Scliar Marília O.1,Nunes Kelly2,Wang Jaqueline Y. T.1,Yamamoto Guilherme L.1456,Guio Heinner78,Tarazona‐Santos Eduardo9101112,Duarte Yeda A. O.1314,Passos‐Bueno Maria Rita12,Meyer Diogo2,Zatz Mayana12

Affiliation:

1. Human Genome and Stem Cell Research Center, University of São Paulo São Paulo São Paulo Brazil

2. Department of Genetics and Evolutionary Biology Biosciences Institute, University of São Paulo São Paulo São Paulo Brazil

3. Hospital Israelita Albert Einstein São Paulo São Paulo Brazil

4. Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo São Paulo São Paulo Brazil

5. Orthopedic Research Labs, Boston Children's Hospital and Department of Genetics Harvard Medical School Boston Massachusetts USA

6. Laboratório DASA São Paulo São Paulo Brazil

7. Instituto Nacional de Salud Lima Peru

8. Universidad de Huánuco Huánuco Peru

9. Departamento de Genética Ecologia e Evolução, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais Belo Horizonte Minas Gerais Brazil

10. Mosaico Translational Genomics Initiative Universidade Federal de Minas Gerais Belo Horizonte Minas Gerais Brazil

11. Facultad de Salud Pública y Administración Universidad Peruana Cayetano Heredia Lima Peru

12. Instituto de Estudos Avançados Transdisciplinares, Universidade Federal de Minas Gerais Belo Horizonte Minas Gerais Brazil

13. Medical‐Surgical Nursing Department School of Nursing, University of São Paulo São Paulo São Paulo Brazil

14. Epidemiology Department Public Health School, University of São Paulo São Paulo São Paulo Brazil

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Fundação de Amparo à Pesquisa do Estado de São Paulo

National Institute of General Medical Sciences

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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