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Precise diagnosis of three top cancers using dbGaP data

The challenge of decoding information about complex diseases hidden in huge number of single nucleotide polymorphism (SNP) genotypes is undertaken based on five dbGaP studies. Current genome-wide association studies have successfully identified many high-risk SNPs associated with diseases, but preci...

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Autores principales: Liu, Xu-Qing, Liu, Xin-Sheng, Rong, Jian-Ying, Gao, Feng, Wu, Yan-Dong, Deng, Chun-Hua, Jiang, Hong-Yan, Li, Xiao-Feng, Chen, Ye-Qin, Zhao, Zhi-Guo, Liu, Yu-Ting, Chen, Hai-Wen, Li, Jun-Liang, Huang, Yu, Ji, Cheng-Yao, Liu, Wen-Wen, Luo, Xiao-Hu, Xiao, Li-Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7804208/
https://www.ncbi.nlm.nih.gov/pubmed/33436913
http://dx.doi.org/10.1038/s41598-020-80832-x
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author Liu, Xu-Qing
Liu, Xin-Sheng
Rong, Jian-Ying
Gao, Feng
Wu, Yan-Dong
Deng, Chun-Hua
Jiang, Hong-Yan
Li, Xiao-Feng
Chen, Ye-Qin
Zhao, Zhi-Guo
Liu, Yu-Ting
Chen, Hai-Wen
Li, Jun-Liang
Huang, Yu
Ji, Cheng-Yao
Liu, Wen-Wen
Luo, Xiao-Hu
Xiao, Li-Li
author_facet Liu, Xu-Qing
Liu, Xin-Sheng
Rong, Jian-Ying
Gao, Feng
Wu, Yan-Dong
Deng, Chun-Hua
Jiang, Hong-Yan
Li, Xiao-Feng
Chen, Ye-Qin
Zhao, Zhi-Guo
Liu, Yu-Ting
Chen, Hai-Wen
Li, Jun-Liang
Huang, Yu
Ji, Cheng-Yao
Liu, Wen-Wen
Luo, Xiao-Hu
Xiao, Li-Li
author_sort Liu, Xu-Qing
collection PubMed
description The challenge of decoding information about complex diseases hidden in huge number of single nucleotide polymorphism (SNP) genotypes is undertaken based on five dbGaP studies. Current genome-wide association studies have successfully identified many high-risk SNPs associated with diseases, but precise diagnostic models for complex diseases by these or more other SNP genotypes are still unavailable in the literature. We report that lung cancer, breast cancer and prostate cancer as the first three top cancers worldwide can be predicted precisely via 240–370 SNPs with accuracy up to 99% according to leave-one-out and 10-fold cross-validation. Our findings (1) confirm an early guess of Dr. Mitchell H. Gail that about 300 SNPs are needed to improve risk forecasts for breast cancer, (2) reveal an incredible fact that SNP genotypes may contain almost all information that one wants to know, and (3) show a hopeful possibility that complex diseases can be precisely diagnosed by means of SNP genotypes without using phenotypical features. In short words, information hidden in SNP genotypes can be extracted in efficient ways to make precise diagnoses for complex diseases.
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spelling pubmed-78042082021-01-13 Precise diagnosis of three top cancers using dbGaP data Liu, Xu-Qing Liu, Xin-Sheng Rong, Jian-Ying Gao, Feng Wu, Yan-Dong Deng, Chun-Hua Jiang, Hong-Yan Li, Xiao-Feng Chen, Ye-Qin Zhao, Zhi-Guo Liu, Yu-Ting Chen, Hai-Wen Li, Jun-Liang Huang, Yu Ji, Cheng-Yao Liu, Wen-Wen Luo, Xiao-Hu Xiao, Li-Li Sci Rep Article The challenge of decoding information about complex diseases hidden in huge number of single nucleotide polymorphism (SNP) genotypes is undertaken based on five dbGaP studies. Current genome-wide association studies have successfully identified many high-risk SNPs associated with diseases, but precise diagnostic models for complex diseases by these or more other SNP genotypes are still unavailable in the literature. We report that lung cancer, breast cancer and prostate cancer as the first three top cancers worldwide can be predicted precisely via 240–370 SNPs with accuracy up to 99% according to leave-one-out and 10-fold cross-validation. Our findings (1) confirm an early guess of Dr. Mitchell H. Gail that about 300 SNPs are needed to improve risk forecasts for breast cancer, (2) reveal an incredible fact that SNP genotypes may contain almost all information that one wants to know, and (3) show a hopeful possibility that complex diseases can be precisely diagnosed by means of SNP genotypes without using phenotypical features. In short words, information hidden in SNP genotypes can be extracted in efficient ways to make precise diagnoses for complex diseases. Nature Publishing Group UK 2021-01-12 /pmc/articles/PMC7804208/ /pubmed/33436913 http://dx.doi.org/10.1038/s41598-020-80832-x Text en © The Author(s) 2021 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Liu, Xu-Qing
Liu, Xin-Sheng
Rong, Jian-Ying
Gao, Feng
Wu, Yan-Dong
Deng, Chun-Hua
Jiang, Hong-Yan
Li, Xiao-Feng
Chen, Ye-Qin
Zhao, Zhi-Guo
Liu, Yu-Ting
Chen, Hai-Wen
Li, Jun-Liang
Huang, Yu
Ji, Cheng-Yao
Liu, Wen-Wen
Luo, Xiao-Hu
Xiao, Li-Li
Precise diagnosis of three top cancers using dbGaP data
title Precise diagnosis of three top cancers using dbGaP data
title_full Precise diagnosis of three top cancers using dbGaP data
title_fullStr Precise diagnosis of three top cancers using dbGaP data
title_full_unstemmed Precise diagnosis of three top cancers using dbGaP data
title_short Precise diagnosis of three top cancers using dbGaP data
title_sort precise diagnosis of three top cancers using dbgap data
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7804208/
https://www.ncbi.nlm.nih.gov/pubmed/33436913
http://dx.doi.org/10.1038/s41598-020-80832-x
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