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Inferring causality and functional significance of human coding DNA variants

Sequencing technology enables the complete characterization of human genetic variation. Statistical genetics studies identify numerous loci linked to or associated with phenotypes of direct medical interest. The major remaining challenge is to characterize functionally significant alleles that are c...

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Autore principale: Sunyaev, Shamil R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3459643/
https://ncbi.nlm.nih.gov/pubmed/22990389
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds385
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