GenoSkyline specifications


Unique identifier OMICS_10236
Name GenoSkyline
Software type Package/Module
Interface Command line interface
Restrictions to use None
Operating system Mac OS
Computer skills Advanced
Stability Stable
Maintained Yes


  • Primates
    • Homo sapiens


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  • person_outline Qiongshi Lu <>

Publication for GenoSkyline

GenoSkyline in publications

PMCID: 5805369
PMID: 29377896
DOI: 10.1371/journal.pgen.1007186

[…] procedure was proposed to first identify trait-relevant tissue group and then identify trait-relevant tissue within the tissue group []. in addition, using synthetic annotations generated from genoskyline [] or fun-lda [] could be particularly useful for identifying fine scale trait-relevant tissues. our method can be easily adapted to incorporate a two-step analysis procedure and/or […]

PMCID: 5820601
PMID: 29473046
DOI: 10.1212/NXG.0000000000000210

[…] the observed genetic variation of 60,706 healthy individuals; and (4) overlapping cnvs reported in 20,227 controls. genome-wide brain-specific noncoding functional elements were extracted from the genoskyline; project (, which implements a statistical framework based on high-throughput genetic and epigenetic data to predict tissue-specific functional […]

PMCID: 5546707
PMID: 28742084
DOI: 10.1371/journal.pgen.1006933

[…] for a variety of cell and tissue types. however, synthesis of these datasets into effective summary metrics to characterize the functional non-coding genome remains a challenge. here, we present genoskyline-plus, an extension of our previous work through integration of an expanded set of epigenomic and transcriptomic annotations to produce high-resolution, single tissue annotations. […]

PMCID: 5482506
PMID: 28598966
DOI: 10.1371/journal.pgen.1006836

[…] posterior expectation ()., for both infinitesimal and non-infinitesimal models, we used a total of 61 different annotation categories, including functional genome predicted by genocanyon scores [], genoskyline tissue-specific functionality scores of 7 tissue types [], and 53 baseline annotations for diverse genomic features []. more specifically, genocanyon is a statistical framework to predict […]

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GenoSkyline institution(s)
Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA; Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA; Division of Cardiovascular Medicine, Department of Internal Medicine, Yale School of Medicine, New Haven, CT, USA
GenoSkyline funding source(s)
This study was supported in part by the National Institutes of Health grants R01 GM59507, the VA Cooperative Studies Program of the Department of Veterans Affairs, Office of Research and Development, and the Yale World Scholars Program sponsored by the China Scholarship Council.

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