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Variant detection sensitivity and biases in whole genome and exome sequencing
BACKGROUND: Less than two percent of the human genome is protein coding, yet that small fraction harbours the majority of known disease causing mutations. Despite rapidly falling whole genome sequencing (WGS) costs, much research and increasingly the clinical use of sequence data is likely to remain...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4122774/ https://ncbi.nlm.nih.gov/pubmed/25038816 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-15-247 |
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