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June 16, 2022Genome MedicineOpen Access

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

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Authors

GSGaby SchobersJSJolanda SchievingHYHelger G. Yntema

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Cite This Study

Schobers et al. (2022) studied this question.

synapsesocial.com/papers/6ab613582b4ef78bbc6cd407https://doi.org/10.1186/s13073-022-01069-z
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1The Ensembl Variant Effect Predictor2016 · 8,914 citations
  2. 2ClinVar: improving access to variant interpretations and supporting evidence2017 · 4,623 citations
  3. 3Clinical Exome Reanalysis: Current Practice and Beyond2021 · 58 citations