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. Author manuscript; available in PMC: 2017 Oct 1.
Published in final edited form as: Eur J Med Genet. 2016 Aug 31;59(10):540–545. doi: 10.1016/j.ejmg.2016.08.012

Table 2.

Quality metrics for Next Generation sequencing of Proband

Proband Add other family members
(parents, sibs…) as
appropriate
Total captured regions size 70 Mb NA
% of captured regions with coverage >10 97% NA
Average coverage of captured region (%) 83 × NA
Total number of SNPs 21,680 NA
Total number of INDELs 676 NA
Total number of rare homozygous variants (<1%
population frequency)		 3 NA