| Autor: |
McInerney, Tim W, Fulton-Howard, Brian, Patterson, Christopher, Paliwal, Devashi, Jermiin, Lars S, Patel, Hardip R, Pa, Judy, Swerdlow, Russell H, Goate, Alison, Easteal, Simon, Andrews, Shea J |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| DOI: |
10.1101/649293 |
| Popis: |
Motivation Many available genotyping microarrays do not include sufficient mitochondrial single nucleotide variants (mtSNVs) to accurately assign sequences to their correct haplogroup. To address this, we created an easy to use mitochondrial DNA imputation pipeline, MitoImpute. Results We validated imputation accuracy by measuring haplogroup and genotype concordance in two datasets, 1000 Genomes Project and the Alzheimer’s Disease Neuroimaging Initiative. In both datasets, we observed a significant improvement in haplogroup concordance and excellent genotype concordance measures. We demonstrated that MitoImpute can be utilised by long-term studies whose older datasets have limited mtSNV genotypes, thus making them comparable with newer resequenced datasets. Availability https://github.com/sjfandrews/MitoImpute |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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