paratext · Figshare · 2017
Workflow of variant discovery and validation.
Kim Jihoon, Shimizu Chisato, F. Kingsmore Stephen, Narayanan Veeraraghavan, L. Berlow Eric, Santos Andre M. Ribeiro dos, Yang Hai, Flatley Jay, Truong Hoang Long, L. Hibberd Martin, Heguy Adriana, Olivier Harismendy, Ohno-Machado Lucila, Chuen-Jiuan Jane
Cited by 0Open access
Abstract
<p>The diagram illustrates a discovery and validation workflow starting from called variants in an African American family of six members with two KD-affected children as a discovery analysis on WGS followed by knowledge-based filtering derived from published GWAS, disease pathogenesis, and gene-level validation using differential transcript abundance. Confidence filter: a call quality at least 20 and read depth at least 10. Differentially expressed: ≥ 1.2-fold change between acute and convalescent whole blood transcripts. Abbrv.: AF: allele frequency; NA: not available, GWAS: genome-wide association study; KD: Kawasaki disease; <i>TLR6</i>: <i>Toll-like receptor 6</i>; <i>MEF2A</i>: <i>myocyte enhancer factor 2A; ARRDC4</i>:<i>arrestin domain containing 4</i>; <i>SLK</i>: <i>STE20 like kinase</i>; <i>TACSTD2</i>: <i>tumor-associated calcium signal transducer 2</i>.</p>
Cite this paper
Jihoon, K., Chisato, S., Stephen, F. K., Veeraraghavan, N., Eric, L. B., dos, S. A. M. R., Hai, Y., Jay, F., Long, T. H., Martin, L. H., Adriana, H., Harismendy, O., Lucila, O.-M., & Jane, C.-J. (2017). Workflow of variant discovery and validation. Figshare. https://doi.org/10.1371/journal.pone.0170977.g001
Jihoon, Kim, et al. “Workflow of variant discovery and validation.” Figshare, 2017, https://doi.org/10.1371/journal.pone.0170977.g001.
Jihoon, Kim, Shimizu Chisato, F. Kingsmore Stephen, Narayanan Veeraraghavan, L. Berlow Eric, Santos Andre M. Ribeiro dos, Yang Hai, et al. 2017. “Workflow of variant discovery and validation.” Figshare. https://doi.org/10.1371/journal.pone.0170977.g001.
Jihoon, K. et al. (2017) ‘Workflow of variant discovery and validation’, Figshare. Available at: https://doi.org/10.1371/journal.pone.0170977.g001.
@article{jihoon2017workflow,
title = {{Workflow of variant discovery and validation.}},
author = {Jihoon, Kim and Chisato, Shimizu and Stephen, F. Kingsmore and Veeraraghavan, Narayanan and Eric, L. Berlow and dos, Santos Andre M. Ribeiro and Hai, Yang and Jay, Flatley and Long, Truong Hoang and Martin, L. Hibberd and Adriana, Heguy and Harismendy, Olivier and Lucila, Ohno-Machado and Jane, Chuen-Jiuan},
journal = {Figshare},
year = {2017},
doi = {10.1371/journal.pone.0170977.g001}
}Made from the index record. Check names, capitalisation and page numbers against the paper. Need another style? AI for Research has over 10,000.