ArticleBMC medical genomics2016
Explorations to improve the completeness of exome sequencing.
Article in BMC medical genomics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- Article
- A domestic cat whole exome sequencing resource for trait discovery.Scientific reports · 2021Article
- The undiagnosed diseases program: Approach to diagnosis.Translational science of rare diseases · 2020Article
- Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.Orphanet journal of rare diseases · 2020Article
- Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.PloS one · 2017Article
- Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundExome sequencing has advanced to clinical practice and proven useful for obtaining molecular diagnoses in rare diseases. In approximately 75 % of cases, however, a clinical exome study does not produce a definitive molecular diagnosis. These residual cases comprise a new diagnostic challenge for the genetics community. The Undiagnosed Diseases Program of the National Institutes of Health routinely utilizes exome sequencing for refractory clinical cases. Our preliminary data suggest that disease-causing variants may be missed by current standard-of-care clinical exome analysis. Such false negatives reflect limitations in experimental design, technical performance, and data analysis.
resultsWe present examples from our datasets to quantify the analytical performance associated with current practices, and explore strategies to improve the completeness of data analysis. In particular, we focus on patient ascertainment, exome capture, inclusion of intronic variants, and evaluation of medium-sized structural variants.
conclusionsThe strategies we present may recover previously-missed, disease causing variants in second-pass exome analysis. Understanding the limitations of the current clinical exome search space provides a rational basis to improve methods for disease variant detection using genome-scale sequencing techniques.
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