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

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

Abstract 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 supple...

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Main Authors: Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, Hanan E. Shamseldin, Nisha Patel, Fatema Alzahrani, Tarfa AlSheddi, Eman AlObeid, Mona Alenazi, Hessa S. Alsaif, Maha Alqahtani, Maha AlAli, Hatoon Al Ali, Rana Helaby, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Nadine Hanna, Dorota Monies, Nada Derar, Afaf Alsagheir, Amal Alhashem, Badr Alsaleem, Hamoud Alhebbi, Sami Wali, Ramzan Umarov, Xin Gao, Fowzan S. Alkuraya
Format: Article
Language:English
Published: BMC 2020-06-01
Series:Genome Biology
Subjects:
Negative WES
RNA-based diagnostics
Mapping
Mendelian
Transcriptomics
Online Access:http://link.springer.com/article/10.1186/s13059-020-02053-9

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http://link.springer.com/article/10.1186/s13059-020-02053-9

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