Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

BACKGROUND: At least 50% of patients with suspected Mendelian disorders remain undiagnosed after whole-exome sequencing (WES), and the extent to which non-coding variants that are not captured by WES contribute to this fraction is unclear. Whole transcriptome sequencing is a promising supplement to...

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Detalles Bibliográficos
Autores principales: Maddirevula, Sateesh, Kuwahara, Hiroyuki, Ewida, Nour, Shamseldin, Hanan E., Patel, Nisha, Alzahrani, Fatema, AlSheddi, Tarfa, AlObeid, Eman, Alenazi, Mona, Alsaif, Hessa S., Alqahtani, Maha, AlAli, Maha, Al Ali, Hatoon, Helaby, Rana, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Hanna, Nadine, Monies, Dorota, Derar, Nada, Alsagheir, Afaf, Alhashem, Amal, Alsaleem, Badr, Alhebbi, Hamoud, Wali, Sami, Umarov, Ramzan, Gao, Xin, Alkuraya, Fowzan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298854/
https://www.ncbi.nlm.nih.gov/pubmed/32552793
http://dx.doi.org/10.1186/s13059-020-02053-9

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