Exome and genome sequencing for inborn errors of immunity

Journal of Allergy and Clinical Immunology

Volumn 138, Issue 4, 2016, Pages 957-969

  Meyts, Isabelle ^a   Bosch, Barbara ^a,b   Bolze, Alexandre ^b,c   Boisson, Bertrand ^b,d,e   Itan, Yuval ^b   Belkadi, Aziz ^d,e   Pedergnana, Vincent ^d,e,f   Moens, Leen ^a   Picard, Capucine ^d,e   Cobat, Aurélie ^d,e   Bossuyt, Xavier ^a   Abel, Laurent ^b,d,e   Casanova, Jean Laurent ^b,d,e,g  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b ROCKEFELLER UNIVERSITY   (United States)

^c Helix   (United States)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f UNIVERSITY OF OXFORD   (United Kingdom)

^g HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Next generation sequencing; primary immunodeficiency; targeted sequencing; whole exome sequencing; whole genome sequencing

Indexed keywords

GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HUMAN; IMMUNE DEFICIENCY; INFLAMMATORY DISEASE; INHERITANCE; NEXT GENERATION SEQUENCING; PENETRANCE; PRIORITY JOURNAL; REVIEW; WHOLE EXOME SEQUENCING; EXOME; GENETIC VARIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME;

EXOME; GENETIC DISEASES, INBORN; GENETIC VARIATION; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES;

EID: 84992205953     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2016.08.003     Document Type: Review

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