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1.
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
J Hum Genet
; 57(1): 70-2, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-22129557
2.
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Nat Genet
; 47(7): 717-726, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25985138
3.
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications.
Nat Genet
; 46(8): 912-918, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-25017105
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