Associated Papers
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-0008-Table_S11.xlsx › Sheet1
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Lindstrand A et al.
American Journal of Human Genetics, 2014
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