In silico tools for accurate HLA and KIR inference from clinical sequencing data empower immunogenetics on individual-patient and population scales.
Brief Bioinform
; 22(3)2021 05 20.
Article
em En
| MEDLINE
| ID: mdl-32940337
ABSTRACT
Immunogenetic variation in humans is important in research, clinical diagnosis and increasingly a target for therapeutic intervention. Two highly polymorphic loci play critical roles, namely the human leukocyte antigen (HLA) system, which is the human version of the major histocompatibility complex (MHC), and the Killer-cell immunoglobulin-like receptors (KIR) that are relevant for responses of natural killer (NK) and some subsets of T cells. Their accurate classification has typically required the use of dedicated biological specimens and a combination of in vitro and in silico efforts. Increased availability of next generation sequencing data has led to the development of ancillary computational solutions. Here, we report an evaluation of recently published algorithms to computationally infer complex immunogenetic variation in the form of HLA alleles and KIR haplotypes from whole-genome or whole-exome sequencing data. For both HLA allele and KIR gene typing, we identified tools that yielded >97% overall accuracy for four-digit HLA types, and >99% overall accuracy for KIR gene presence, suggesting the readiness of in silico solutions for use in clinical and high-throughput research settings.
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Base de dados:
MEDLINE
Assunto principal:
Simulação por Computador
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Polimorfismo de Nucleotídeo Único
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Receptores KIR
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Sequenciamento de Nucleotídeos em Larga Escala
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Antígenos HLA
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Imunogenética
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article