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2012 1
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Annotation of functional variation in personal genomes using RegulomeDB.
Boyle AP, Hong EL, Hariharan M, Cheng Y, Schaub MA, Kasowski M, Karczewski KJ, Park J, Hitz BC, Weng S, Cherry JM, Snyder M. Boyle AP, et al. Genome Res. 2012 Sep;22(9):1790-7. doi: 10.1101/gr.137323.112. Genome Res. 2012. PMID: 22955989 Free PMC article.
As the sequencing of healthy and disease genomes becomes more commonplace, detailed annotation provides interpretation for individual variation responsible for normal and disease phenotypes. ...We demonstrate the applicability of this tool to the annotatio
As the sequencing of healthy and disease genomes becomes more commonplace, detailed annotation provides interpretation for ind …
Genetic variation in POT1 and risk of thyroid subsequent malignant neoplasm: A report from the Childhood Cancer Survivor Study.
Richard MA, Lupo PJ, Morton LM, Yasui YA, Sapkota YA, Arnold MA, Aubert G, Neglia JP, Turcotte LM, Leisenring WM, Sampson JN, Chanock SJ, Hudson MM, Armstrong GT, Robison LL, Bhatia S, Gramatges MM. Richard MA, et al. PLoS One. 2020 Feb 10;15(2):e0228887. doi: 10.1371/journal.pone.0228887. eCollection 2020. PLoS One. 2020. PMID: 32040538 Free PMC article.
Here, we investigated associations between thyroid subsequent malignant neoplasm and inherited variation in telomere maintenance genes. METHODS: We used RegulomeDB to annotate the functional impact of variants mapping to 14 telomere maintenance genes a …
Here, we investigated associations between thyroid subsequent malignant neoplasm and inherited variation in telomere maintenance gene …
Filtering genetic variants and placing informative priors based on putative biological function.
Friedrichs S, Malzahn D, Pugh EW, Almeida M, Liu XQ, Bailey JN. Friedrichs S, et al. BMC Genet. 2016 Feb 3;17 Suppl 2(Suppl 2):8. doi: 10.1186/s12863-015-0313-x. BMC Genet. 2016. PMID: 26866982 Free PMC article.
Priors can be based on biological knowledge or predicted variant function, or even be used to integrate gene expression or other omics data. Based on Genetic Analysis Workshop (GAW) 19 data, this article discusses diversity and usefulness of functional variant score …
Priors can be based on biological knowledge or predicted variant function, or even be used to integrate gene expression or other omic …
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