Supplementary Materials

Supplementary Material for:

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Tomasz Zemojtel, Sebastian Köhler, Luisa Mackenroth, Marten Jäger, Jochen Hecht, Peter Krawitz, Luitgard Graul-Neumann, Sandra Doelken, Nadja Ehmke, Malte Spielmann, Nancy Christine Øien, Michal R. Schweiger, Ulrike Krüger, Götz Frommer, Björn Fischer, Uwe Kornak, Ricarda Flöttmann, Amin Ardeshirdavani, Yves Moreau, Suzanna E. Lewis, Melissa Haendel, Damian Smedley, Denise Horn, Stefan Mundlos, Peter N. Robinson*

*Corresponding author. E-mail:

Published 3 September 2014, Sci. Transl. Med. 6, 252ra123 (2014)
DOI: 10.1126/scitranslmed.3009262

This PDF file includes:

  • Fig. S1. Distribution of the coverage fraction for all sequenced 96 samples.
  • Fig. S2. Computational evaluation of PhenIX.
  • Table S1. Percentage of target bases that exceed coverages of 10, 20, ..., 100 reads.
  • Table S2. Read alignment and coverage summary statistics.
  • Table S3. Average number of variants called only from the original BAM files from the DAG panels.
  • Table S4. Detailed clinical and molecular findings for the 11 individuals in whom a previously unknown diagnosis was clarified by PhenIX analysis.
  • Table S5. Clinical presentation of 29 patients for whom PhenIX analysis failed to reveal a molecular diagnosis.
  • References (6470)

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Other Supplementary Material for this manuscript includes the following:

  • Table S6 (Microsoft Excel format). List of genes (with references) present in the DAG panel.

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