Immunogenetics is an emerging field of interplay between genomics and the immune system. In the last 10 years more than 200 genetic causes of primary immunodeficiencies or immune dysregulation have been described. The genetic etiology of many immunological diseases, with a spectrum spanning from immunodeficiency to autoimmune diseases, remains under-recognized or largely unknown. Genomic assays, such as chromosomal microarray, exome or genome sequencing, have generated remarkable data allowing investigation of variations at genome-wide scale. Implementation of genomic approaches in patients with immune dysregulation have dramatically expanded the understanding of genetic etiology and improved patient care. The massive amount of genomic data provides unprecedented opportunities for novel genomic and phenomic analyses, functional characterization and interpretation of variants, conceptualization of novel biological mechanisms and application in clinical settings.
This Research Topic aims to cover how genomic data are utilized to assist the improved understanding of immune dysregulations and apply them in clinical settings. The research can be related to the following topics (1) demonstration of newly developed methods and/or tools that facilitate genomic data analysis and interpretation, and improved analytical and/or clinical utility; (2) novel variations or genes identified by genomic assays that contribute to new understandings on immune diseases; (3) functional characterization shedding light on the altered biological function that is new to the understanding of disease mechanisms; (4) representative cases showing establishment of molecular diagnosis and its influence on patient care.
Within the scope of immunogenetics, potential subjects include but not limited to:
• Development of new tools or methods facilitating genomic data analysis and interpretation
• Phenotype-genotype correlation studies established from large patient cohorts
• Knowledge-supplementing novel variations with solid genetic and/or functional evidence
• Discovery of new genetic mechanisms with solid genetic and/or functional evidence
• Clinical care influenced by genomics
• Both original investigation and case reports will be considered.
Immunogenetics is an emerging field of interplay between genomics and the immune system. In the last 10 years more than 200 genetic causes of primary immunodeficiencies or immune dysregulation have been described. The genetic etiology of many immunological diseases, with a spectrum spanning from immunodeficiency to autoimmune diseases, remains under-recognized or largely unknown. Genomic assays, such as chromosomal microarray, exome or genome sequencing, have generated remarkable data allowing investigation of variations at genome-wide scale. Implementation of genomic approaches in patients with immune dysregulation have dramatically expanded the understanding of genetic etiology and improved patient care. The massive amount of genomic data provides unprecedented opportunities for novel genomic and phenomic analyses, functional characterization and interpretation of variants, conceptualization of novel biological mechanisms and application in clinical settings.
This Research Topic aims to cover how genomic data are utilized to assist the improved understanding of immune dysregulations and apply them in clinical settings. The research can be related to the following topics (1) demonstration of newly developed methods and/or tools that facilitate genomic data analysis and interpretation, and improved analytical and/or clinical utility; (2) novel variations or genes identified by genomic assays that contribute to new understandings on immune diseases; (3) functional characterization shedding light on the altered biological function that is new to the understanding of disease mechanisms; (4) representative cases showing establishment of molecular diagnosis and its influence on patient care.
Within the scope of immunogenetics, potential subjects include but not limited to:
• Development of new tools or methods facilitating genomic data analysis and interpretation
• Phenotype-genotype correlation studies established from large patient cohorts
• Knowledge-supplementing novel variations with solid genetic and/or functional evidence
• Discovery of new genetic mechanisms with solid genetic and/or functional evidence
• Clinical care influenced by genomics
• Both original investigation and case reports will be considered.
