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February 7, 2017Clinical Genetics

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing

Tuğçe B. Balcı Taila Hartley Y. Xi David A. Dyment Chandree L. Beaulieu François P. Bernier Lucie Dupuis Gabriella Horváth Roberto Mendoza‐Londono C. Prasad Julie Richer Xia Yang Christine M. Armour Eric Bareke Bridget A. Fernandez Hugh J. McMillan Ryan E. Lamont Jacek Majewski Jillian S. Parboosingh Asuri N. Prasad C. Anthony Rupar Jeremy Schwartzentruber Amanda Smith Martine Tétreault A. Micheil Innes Kym M. Boycott

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Abstract

Our findings highlight the importance of comprehensive clinical phenotyping of family members to ultimately provide accurate genetic counseling.

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Cite This Study

Balcı et al. (2017) studied this question.

synapsesocial.com/papers/69dd3a19fb7610310c10121d https://doi.org/10.1111/cge.12987

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery ProjectGenetic Association Study · 2014 · 239 citations
2Molecular Findings Among Patients Referred for Clinical Whole-Exome SequencingOriginal Research · 2014 · 1,361 citations
3Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditionsCohort Study · 2014 · 470 citations
4Clinical Exome Sequencing for Genetic Identification of Rare Mendelian DisordersOriginal Research · 2014 · 973 citations
5Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationRetrospective Study · 2016 · 771 citations

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Diagnostic Clinical Genome and Exome Sequencing2014
Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing2016

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