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Assessing the impact of sequencing platforms and analytical pipelines on whole-exome sequencing.

作者信息

Sun Yanping, Zhao Xiaochao, Fan Xue, Wang Miao, Li Chaoyang, Liu Yongfeng, Wu Ping, Yan Qin, Sun Lei

机构信息

GeneMind Biosciences Company Limited, Shenzhen, China.

Clinical Research Institute, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

出版信息

Front Genet. 2024 May 16;15:1334075. doi: 10.3389/fgene.2024.1334075. eCollection 2024.

DOI:10.3389/fgene.2024.1334075
PMID:38818042
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11137314/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93a2/11137314/ad26d9a652ae/fgene-15-1334075-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93a2/11137314/ad26d9a652ae/fgene-15-1334075-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93a2/11137314/ad26d9a652ae/fgene-15-1334075-g001.jpg

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The evaluation of Bcftools mpileup and GATK HaplotypeCaller for variant calling in non-human species.
联邦学习:打破全球基因组研究中的障碍。
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Sci Rep. 2022 Jul 5;12(1):11331. doi: 10.1038/s41598-022-15563-2.
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Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery.系统基准测试最先进的变异调用管道,确定影响编码序列变异发现准确性的主要因素。
BMC Genomics. 2022 Feb 22;23(1):155. doi: 10.1186/s12864-022-08365-3.
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