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Rare variant phasing and haplotypic expression from RNA sequencing with phASER
Haplotype phasing of genetic variants is important for clinical interpretation of the genome, population genetic analysis and functional genomic analysis of allelic activity. Here we present phASER, an accurate approach for phasing variants that are overlapped by sequencing reads, including those fr...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025529/ https://www.ncbi.nlm.nih.gov/pubmed/27605262 http://dx.doi.org/10.1038/ncomms12817 |