Diverse ancestry whole-genome sequencing association study identifies

التفاصيل البيبلوغرافية
العنوان: Diverse ancestry whole-genome sequencing association study identifies
المؤلفون: Melanie M Y, Chan, Omid, Sadeghi-Alavijeh, Filipa M, Lopes, Alina C, Hilger, Horia C, Stanescu, Catalin D, Voinescu, Glenda M, Beaman, William G, Newman, Marcin, Zaniew, Stefanie, Weber, Yee Mang, Ho, John O, Connolly, Dan, Wood, Carlo, Maj, Alexander, Stuckey, Athanasios, Kousathanas, Robert, Kleta, Adrian S, Woolf, Detlef, Bockenhauer, Adam P, Levine, M, Zarowiecki
المصدر: eLife. 11
سنة النشر: 2021
مصطلحات موضوعية: Male, Humans, Receptor Protein-Tyrosine Kinases, Child, T-Box Domain Proteins, Urinary Tract, Cell Adhesion Molecules, Chromatin, Genome-Wide Association Study, Transcription Factors
الوصف: Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains unknown. We performed a sequencing-based genome-wide association study (seqGWAS) in 132 unrelated male PUV cases and 23,727 controls of diverse ancestry, identifying statistically significant associations with common variants at 12q24.21 (p=7.8 × 10
تدمد: 2050-084X
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::47e52f92bf607f5f158e98f98b97c5d3
https://pubmed.ncbi.nlm.nih.gov/36124557
Rights: OPEN
رقم الانضمام: edsair.pmid..........47e52f92bf607f5f158e98f98b97c5d3
قاعدة البيانات: OpenAIRE