When " of 2" is not enough: integrating statistical and functional data in gene discovery.
Cold Spring Harbor molecular case studies, ISSN: 2373-2873, Vol: 3, Issue: 3, Page: a001099
2017
- 1Citations
- 8Captures
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Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
Citation Benchmarking is provided by Scopus and SciVal and is different from the metrics context provided by PlumX Metrics.
Metrics Details
- Citations1
- Citation Indexes1
- CrossRef1
- Captures8
- Readers8
Article Description
The expanding use of genomic sequencing promises to improve clinical diagnostics and to drive the discovery of new disease genes. Candidate genes are increasingly being identified through recurrent cases (e.g., two or more independent cases [" of 2"] in which variants are present in the same gene). These second case hits provide statistical evidence of an association, which may then be combined with functional validation or familial segregation studies to bolster the evidence that a gene is truly causal. Here, we discuss how to integrate different forms of functional evidence with human genetics case and segregation data to improve the significance of new disease-gene associations.
Bibliographic Details
Cold Spring Harbor Laboratory
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