Identification and validation of loss of function variants in clinical contexts

Molecular Genetics and Genomic Medicine

Volumn 2, Issue 1, 2014, Pages 58-63

  Lescai, Francesco ^a,b   Marasco, Elena ^c   Bacchelli, Chiara ^a   Stanier, Philip ^a   Mantovani, Vilma ^b   Beales, Philip ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b AARHUS UNIVERSITY   (Denmark)

^c UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

GATK; Pipelines; Sequencing; Variant calling

Indexed keywords

EID: 84907700204     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.42     Document Type: Article

References (12)

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