Challenges of diagnostic exome sequencing in an inbred founder population

Molecular Genetics and Genomic Medicine

Volumn 1, Issue 2, 2013, Pages 71-76

  Azmanov, Dimitar N ^a   Chamova, Teodora ^b   Tankard, Rick ^c   Gelev, Vladimir ^d   Bynevelt, Michael ^a,e   Florez, Laura ^a   Tzoneva, Dochka ^f   Zlatareva, Dora ^f   Guergueltcheva, Velina ^b   Bahlo, Melanie ^c,g   Tournev, Ivailo ^b,h   Kalaydjieva, Luba ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^c WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^d UNIVERSITY OF SOFIA   (Bulgaria)

^e SIR CHARLES GAIRDNER HOSPITAL   (Australia)

^f UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^g UNIVERSITY OF MELBOURNE   (Australia)

^h NEW BULGARIAN UNIVERSITY   (Bulgaria)

Author keywords

Diagnostic exome sequencing; Disequilibrium syndrome; Founder mutations; Roma Gypsies; VLDLR

Indexed keywords

EID: 84907458402     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.7     Document Type: Article

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