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Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing
BACKGROUND: To facilitate the clinical implementation of genomic medicine by next-generation sequencing, it will be critically important to obtain accurate and consistent variant calls on personal genomes. Multiple software tools for variant calling are available, but it is unclear how comparable th...
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| 主要な著者: | , , , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3706896/ https://ncbi.nlm.nih.gov/pubmed/23537139 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/gm432 |
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