14 Works
Data table 2 - Overview of the sequencing metrics
Cristina dos Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Patrícia Carvalho Batista Miranda, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris & Ana Tereza Ribeiro de Vasconcelos
Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders. This work aims to make available whole-exome sequencing (WES) data of...
Data table 1 - Demographic characteristics of the cohort
Cristina dos Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Patrícia Carvalho Batista Miranda, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris & Ana Tereza Ribeiro de Vasconcelos
Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders. This work aims to make available whole-exome sequencing (WES) data of...
Data table 2 - Overview of the sequencing metrics
Cristina dos Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Patrícia Carvalho Batista Miranda, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris & Ana Tereza Ribeiro de Vasconcelos
Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders. This work aims to make available whole-exome sequencing (WES) data of...
Data table 1 - Demographic characteristics of the cohort
Cristina dos Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Patrícia Carvalho Batista Miranda, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris & Ana Tereza Ribeiro de Vasconcelos
Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders. This work aims to make available whole-exome sequencing (WES) data of...
Data table 3 - Detailed information of the rare and Pathogenic/Likely pathogenic variants found in the cohort
Cristina dos Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris & Ana Tereza Ribeiro de Vasconcelos
Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders. This work aims to make available whole-exome sequencing (WES) data of...
Data table 1 - Demographic characteristics of the cohort
Cristina dos Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Patrícia Carvalho Batista Miranda, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris & Ana Tereza Ribeiro de Vasconcelos
Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders. This work aims to make available whole-exome sequencing (WES) data of...
Data from: Evolution and epidemic spread of SARS-CoV-2 in Brazil
Darlan S. Candido, Ingra M. Claro, Jaqueline G. De Jesus, William M. Souza, Filipe R. R. Moreira, Simon Dellicour, Thomas A. Mellan, Louis Du Plessis, Rafael H. M. Pereira, Flavia C. S. Sales, Erika R. Manuli, Julien Thézé, Luiz Almeida, Mariane T. Menezes, Carolina M. Voloch, Marcilio J. Fumagalli, Thaís M. Coletti, Camila A. M. Da Silva, Mariana S. Ramundo, Mariene R. Amorim, Henrique H. Hoeltgebaum, Swapnil Mishra, Mandev S. Gill, Luiz M. Carvalho, Lewis F. Buss … & Nuno R. Faria
Brazil currently has one of the fastest growing SARS-CoV-2 epidemics in the world. Owing to limited available data, assessments of the impact of non-pharmaceutical interventions (NPIs) on virus spread remain challenging. Using a mobility-driven transmission model, we show that NPIs reduced the reproduction number from >3 to 1–1.6 in São Paulo and Rio de Janeiro. Sequencing of 427 new genomes and analysis of a geographically representative genomic dataset identified >100 international virus introductions in Brazil....
Tables and files mentioned in the work \"Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity\"
Cristina dos Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Patrícia Carvalho Batista Miranda, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris & Ana Tereza Ribeiro de Vasconcelos
This is a collection containing all data table and data files of the work "Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity"
Abstract
Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The...
Abstract
Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The...
Data table 1 - Demographic characteristics of the cohort
Cristina dos Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Patrícia Carvalho Batista Miranda, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris & Ana Tereza Ribeiro de Vasconcelos
Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders. This work aims to make available whole-exome sequencing (WES) data of...
Data file 1 - Flowchart of the pipeline used to prioritize genetic variants
Cristina dos Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Patrícia Carvalho Batista Miranda, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris & Ana Tereza Ribeiro de Vasconcelos
Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders. This work aims to make available whole-exome sequencing (WES) data of...
Data file 1 - Flowchart of the pipeline used to prioritize genetic variants
Cristina dos Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Patrícia Carvalho Batista Miranda, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris & Ana Tereza Ribeiro de Vasconcelos
Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders. This work aims to make available whole-exome sequencing (WES) data of...
Tables and files mentioned in the work \"Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity\"
Cristina dos Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Patrícia Carvalho Batista Miranda, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris & Ana Tereza Ribeiro de Vasconcelos
This is a collection containing all data table and data files of the work "Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity"
Abstract
Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The...
Abstract
Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The...
Data table 3 - Detailed information of the rare and Pathogenic/Likely pathogenic variants found in the cohort
Cristina dos Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris & Ana Tereza Ribeiro de Vasconcelos
Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders. This work aims to make available whole-exome sequencing (WES) data of...
Data table 1 - Demographic characteristics of the cohort
Cristina dos Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Patrícia Carvalho Batista Miranda, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris & Ana Tereza Ribeiro de Vasconcelos
Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders. This work aims to make available whole-exome sequencing (WES) data of...
Affiliations
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Federal University of Rio de Janeiro14
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Laboratório Nacional de Computação Científica14
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London School of Hygiene & Tropical Medicine1
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Universidade de Ribeirão Preto1
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Institute for Applied Economic Research1
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Universidade Federal de Minas Gerais1
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University of Clermont Auvergne1
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Fundação Getulio Vargas1
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University of Edinburgh1
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Université Libre de Bruxelles1