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SNP and indel frequencies at transcription start sites and at canonical and alternative translation initiation sites in the human genome

Single-nucleotide polymorphisms (SNPs) are the most common form of genetic variation in humans and drive phenotypic variation. Due to evolutionary conservation, SNPs and indels (insertion and deletions) are depleted in functionally important sequence elements. Recently, population-scale sequencing e...

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Bibliographic Details
Published in:PLoS One
Main Authors: Neininger, Kerstin, Marschall, Tobias, Helms, Volkhard
Format: Artigo
Language:Inglês
Published: Public Library of Science 2019
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6461226/
https://ncbi.nlm.nih.gov/pubmed/30978217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0214816
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