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Conservation assessment of human splice site annotation based on a 470-genome alignment.

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第一作者： Ilia,Minkin

第一单位： Department of Biomedical Engineering, Johns Hopkins University, 3400 N. Charles Street, Baltimore, MD 21218, United States.;Center for Computational Biology, Johns Hopkins University, 3100 Wyman Park Drive, Baltimore, MD 21211, United States.

作者： Ilia,Minkin ^[1] ; Steven L,Salzberg ^[2]

作者单位： Department of Biomedical Engineering, Johns Hopkins University, 3400 N. Charles Street, Baltimore, MD 21218, United States.;Center for Computational Biology, Johns Hopkins University, 3100 Wyman Park Drive, Baltimore, MD 21211, United States. ^[1] Department of Biomedical Engineering, Johns Hopkins University, 3400 N. Charles Street, Baltimore, MD 21218, United States.;Center for Computational Biology, Johns Hopkins University, 3100 Wyman Park Drive, Baltimore, MD 21211, United States.;Department of Computer Science, Johns Hopkins University, 3400 N. Charles Street, Baltimore, MD 21218, United States.;Department of Biostatistics, Johns Hopkins University, 615 N. Wolfe Street, Baltimore, MD 21205, United States. ^[2]

医学主题词人类(Humans);RNA剪接位点(RNA Splice Sites);分子序列注释(Molecular Sequence Annotation);基因组, 人(Genome, Human);保守序列(Conserved Sequence);外显子(Exons);多态性, 单核苷酸(Polymorphism, Single Nucleotide);序列比对(Sequence Alignment);动物(Animals)

DOI 10.1093/nar/gkaf184

PMID 40119728

发布时间 2025-08-16

基金项目

R01 HG006677/HG/NHGRI NIH HHS/United States R35 GM130151/GM/NIGMS NIH HHS/United States R01-HG006677/NH/NIH HHS/United States NH/NIH HHS/United States

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