Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

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Figure 3.
Figure 3.

Comparison of deletion carrier frequency in our cohort to point mutation carrier frequency reported by Lazarin et al. (2013). Values are derived from Supplemental Table S10. SNV and deletion carrier frequencies for a given gene are poorly correlated (Spearman correlation coefficient = 0.122; P[estimated] = 0.399). Genes for which deletion carrier frequency is higher than SNV carrier frequency are labeled and in green.

This Article

  1. Published in Advance May 16, 2013, doi: 10.1101/gr.156075.113 Genome Res. 23: 1383-1394

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