| Title: | Haplotype estimation for biobank-scale data sets |
| Journal: | Nature Genetics |
| Published: | 6 Jun 2016 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/27270105/ |
| DOI: | https://doi.org/10.1038/ng.3583 |
| URL: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4926957 |
| Citations: | 198 (29 in last 2 years) as of 8 Aug 2024 |
Publication 7550
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Abstract
Jonathan Marchini and colleagues develop a new method for haplotype phasing, SHAPEIT3, capable of handling large data sets from biobanks containing >100,000 genotyped samples. They find that their method is fast and accurate, with a low switch error rate, and can be scaled to data sets from increasingly larger cohorts.</p>
15 Keywords
- Algorithms
- Biological Specimen Banks
- Cohort Studies
- Computational Biology
- Datasets as Topic
- Genetics, Population
- Genome, Human
- Genomics
- Haplotypes
- High-Throughput Nucleotide Sequencing
- Humans
- Polymorphism, Single Nucleotide
- Sequence Analysis, DNA
- United Kingdom
- White People
9 Authors
- Jared O'Connell
- Kevin Sharp
- Nick Shrine
- Louise Wain
- Ian Hall
- Martin Tobin
- Jean-Francois Zagury
- Olivier Delaneau
- Jonathan Marchini
Enabling scientific discoveries that improve human health