Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of <i>de novo</i> mutations.

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作者： Hanna K,Zieger ^[1] ; Leonie,Weinhold ^[2] ; Axel,Schmidt ^[1] ; Manuel,Holtgrewe ^[3] ; Stefan A,Juranek ^[4] ; Anna,Siewert ^[1] ; Annika B,Scheer ^[1] ; Frederic,Thieme ^[1] ; Elisabeth,Mangold ^[1] ; Nina,Ishorst ^[1] ; Fabian U,Brand ^[5] ; Julia,Welzenbach ^[1] ; Dieter,Beule ^[6] ; Katrin,Paeschke ^[4] ; Peter M,Krawitz ^[2] ; Kerstin U,Ludwig ^[1]

作者单位： Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn 53127, Germany. ^[1] Institute for Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Bonn 53127, Germany. ^[2] Core Unit Bioinformatics, Berlin Institute of Health, Berlin 10117, Germany. ^[3] Department of Oncology, Hematology and Rheumatology, University Hospital Bonn, Bonn 53127, Germany. ^[4] Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn 53127, Germany. ^[5] Core Unit Bioinformatics, Berlin Institute of Health, Berlin 10117, Germany.;Max Delbrück Center for Molecular Medicine, Berlin 13125, Germany. ^[6]

关键词 allelic spectrum birth defect muscle development non-coding genome orofacial clefting rare variants transcription factor binding

主题词人类(Humans);腭裂(Cleft Palate);唇裂(Cleft Lip);全基因组关联研究(Genome-Wide Association Study);等位基因(Alleles);突变(Mutation)

DOI 10.1016/j.xhgg.2022.100166

PMID 36589413

发布时间 2024-09-10

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HGG advances

2023年4卷1期

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Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of <i>de novo</i> mutations.

HGG advances

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Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of <i>de novo</i> mutations.

HGG advances

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HGG advances

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