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Analysis of stop-gain and frameshift variants in human innate immunity genes

bioRxiv

Mar 17, 2014

Antonio RausellAmalio Telenti

Abstract

Loss-of-function variants in innate immunity genes are associated with Mendelian disorders in the form of primary immunodeficiencies. Recent resequencing projects report that stop-gains and frameshifts are collectively prevalent in humans and could be responsible for some of the inter-i...read more

Mentioned in this Paper

Immune Response
Complement System Proteins
Primary Immune Deficiency Disorder
Immunologic Deficiency Syndromes
Genome
Genes
Pathogenic Organism
Human leukocyte interferon
Whole Exome Sequencing
Gene Expression
5
2
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Analysis of stop-gain and frameshift variants in human innate immunity genes

bioRxiv

Mar 17, 2014

Antonio RausellAmalio Telenti

PMID: 990003376

DOI: 10.1101/003376

Abstract

Loss-of-function variants in innate immunity genes are associated with Mendelian disorders in the form of primary immunodeficiencies. Recent resequencing projects report that stop-gains and frameshifts are collectively prevalent in humans and could be responsible for some of the inter-i...read more

Mentioned in this Paper

Immune Response
Complement System Proteins
Primary Immune Deficiency Disorder
Immunologic Deficiency Syndromes
Genome
Genes
Pathogenic Organism
Human leukocyte interferon
Whole Exome Sequencing
Gene Expression
5
2

Similar Papers Found In These Feeds

Innate Immunity and CNS

Innate immune responses in the CNS are carried out by microglia and astrocytes. Here is the latest research on mechanisms underlying innate immunity in the CNS and its impact on neurophysiology.

Related Papers

PLoS Computational Biology

Analysis of stop-gain and frameshift variants in human innate immunity genes

PLoS Computational BiologyJuly 25, 2014
Antonio RausellAmalio Telenti
PLoS Genetics

Genic intolerance to functional variation and the interpretation of personal genomes

PLoS GeneticsAugust 31, 2013
Slavé PetrovskiDavid B Goldstein
Paper Details
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    References currently unavailable

    We're still populating references for this paper, please check back later.
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    No citations available

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