Publications by authors named "Barbara C S Reis"
Article Synopsis
- The GA4GH Phenopacket Schema, released in 2022 and approved as a standard by ISO, allows the sharing of clinical and genomic data, including phenotypic descriptions and genetic information, to aid in genomic diagnostics.
- Phenopacket Store Version 0.1.19 offers a collection of 6668 phenopackets linked to various diseases and genes, making it a crucial resource for testing algorithms and software in genomic research.
- This collection represents the first extensive case-level, standardized phenotypic information sourced from medical literature, supporting advancements in diagnostic genomics and machine learning applications.
The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments. There has been a great need for a collection of phenopackets to test software pipelines and algorithms.
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- Inherited genetic defects in immune system-related genes can lead to Inborn Errors of Immunity (IEI), which are challenging to diagnose due to overlapping symptoms, making accurate identification of genetic variants essential for effective treatment and counseling.
- This study conducted genetic screening on 13 patients from Brazil's public health system to find associations between genetic variants and patient characteristics, using whole exome sequencing (WES) and a computational framework for analysis.
- The results identified 16 disease-causing variants across nine genes in six different IEI categories, with X-Linked Agammaglobulinemia as the most common disorder in the group.
Chronic Granulomatous Disease (CGD) is an inborn error of immunity characterized by impaired phagocyte function, recurrent fungal and bacterial infections and granuloma formation in multiple organs. Pediatric myelodysplastic Syndrome (MDS) is a rare hematological stem cell disease that leads to an ineffective hematopoiesis with variable risk of evolution to acute leukemias. Both disorders are rare and have distinct pathophysiologic mechanisms, with no known association.
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