A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease - Concepedia

Concepedia

Publication | Open Access

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

DOI Full Paper Access

285

Citations

56

References

2016

Year

Damian Smedley, Max Schubach, Julius O.B. Jacobsen, Sebastian Köhler, Tomasz Żemojtel, Malte Spielmann, Marten Jäger, Harry Hochheiser, Nicole Washington, Julie A. McMurry,

The American Journal of Human Genetics

BiologyBioinformaticsGenetic AnalysisWhole-genome Analysis FrameworkMendelian DisorderPathogenic Regulatory VariantsGeneticsGenetic EpidemiologyMendelian DiseaseStatistical GeneticsComplex DiseaseDisease Gene IdentificationGenomicsPublic HealthMedicineFunctional Genomics

References

	Year	Citations

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