The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
Haplotype phasing: existing methods and new developments
Open accessAbstract
Determination of haplotype phase is becoming increasingly important as we enter the era of large-scale sequencing because many of its applications, such as imputing low-frequency variants and characterizing the relationship between genetic variation and disease susceptibility, are particularly relevant to sequence data. Haplotype phase can be generated through laboratory-based experimental methods, or it can be estimated using computational approaches. We assess the haplotype phasing methods that are available, focusing in particular on statistical methods, and we discuss the practical aspects of their application. We also describe recent developments that may transform this field, particularly the use of identity-by-descent for computational phasing.
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Cited by
Reference-based phasing using the Haplotype Reference Consortium panel
Loh, P.-R., Danecek, P., Palamara, P. F., Fuchsberger, C., A Reshef, Y., K Finucane, H., Schoenherr, S., Forer, L., McCarthy, S., Abecasis, G. R., et al. (2016) · Nature Genetics · doi:10.1038/ng.3679 · Cited by 1,723
Piercing the dark matter: bioinformatics of long-range sequencing and mapping
Sedlazeck, F. J., Lee, H., Darby, C. A., & Schatz, M. C. (2018) · Nature Reviews Genetics · doi:10.1038/s41576-018-0003-4 · Cited by 530
Fast and accurate long-range phasing in a UK Biobank cohort
Loh, P.-R., Palamara, P. F., & Price, A. L. (2016) · Nature Genetics · doi:10.1038/ng.3571 · Cited by 342
Eizenga, J. M., Novak, A. M., Sibbesen, J. A., Heumos, S., Ghaffaari, A., Hickey, G., Chang, X., Seaman, J. D., Rounthwaite, R., Ebler, J., et al. (2020) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-120219-080406 · Cited by 320
Proteoforms as the next proteomics currency
Smith, L. M., & Kelleher, N. L. (2018) · Science · doi:10.1126/science.aat1884 · Cited by 322
Metadata
- Authors
- Browning, S. R., & Browning, B. L.
- Venue
- Nature Reviews Genetics
- Published
- 2011-09-16
- Volume
- 12
- Issue
- 10
- Pages
- 703-714
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2009441527
- Cited by
- 655
- References
- 21
- FWCI
- 3.11
- Type
- journal article
- Language
- en
- Open access
- green
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