Genetics in Medicine (@gimjournal) 's Twitter Profile
Genetics in Medicine

@gimjournal

Genetics in Medicine, an official journal of @TheACMG Site use policy: bit.ly/gimconduct. Cover Photo "Sharing My Produce" by S.A.M. Steiner, MA, IMH-E

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linkhttps://www.gimjournal.org/ calendar_today05-02-2015 15:55:24

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Genetics in Medicine (@gimjournal) 's Twitter Profile Photo
Genetics in Medicine
@gimjournal

7 months ago

Using large scale genomic data from DDD, exome sequencing based #CNV calling demonstrates superior quality comparable to exon-level CMA in detecting pathogenic CNVs bit.ly/49AVorR Petr Danecek Eugene Gardner Matt Hurles #GIMO #CopyNumberVariation #exomesequencing #raredisease

Using large scale genomic data from DDD, exome sequencing based #CNV calling demonstrates superior quality comparable to exon-level CMA in detecting pathogenic CNVs bit.ly/49AVorR <a href="/petrdanecek/">Petr Danecek</a> <a href="/DrGeneUK/">Eugene Gardner</a> <a href="/mehurles/">Matt Hurles</a> #GIMO #CopyNumberVariation #exomesequencing #raredisease