The DOI matches its Crossref record; 153 of the 153 references it cites were found in a registry or an index.
The impact of rare and low-frequency genetic variants in common disease
Open accessAbstract
Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted for. Advances in sequencing technology enable focused explorations on the contribution of low-frequency and rare variants to human traits. Here we review experimental approaches and current knowledge on the contribution of these genetic variants in complex disease and discuss challenges and opportunities for personalised medicine.
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Cites
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“Because of their scarcity in an individual’s genome, rare variants that play important roles in complex traits are likely to have large functional effects (Bomba et al., 2017), and traditional population or computational genomic methods cannot reliably estimate their contribution (Uricchio et al.”
Background
Metadata
- Authors
- Bomba, L., Walter, K., & Soranzo, N.
- Venue
- Genome Biology
- Published
- 2017-04-27
- Volume
- 18
- Issue
- 1
- Pages
- 77-77
- ISSN
- 1465-6906 (ISSN-L)
- 1474-760X
- OpenAlex
- W2609272369
- Cited by
- 344
- References
- 153
- FWCI
- 20.29
- Type
- journal article
- Language
- en
- Open access
- gold
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- Bomba, L., Walter, K., & Soranzo, N. (2017). The impact of rare and low-frequency genetic variants in common disease. Genome Biology. https://doi.org/10.1186/s13059-017-1212-4
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