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

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

doi:10.1186/s13059-020-02053-9

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

Journal article

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

Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, Hanan E. Shamseldin, Nisha Patel, Fatema Alzahrani, Tarfa AlSheddi, Eman AlObeid, Mona Alenazi, Hessa S. Alsaif, …

Genome Biology, Vol.21(1), pp.145-145

17/06/2020

DOI: https://doi.org/10.1186/s13059-020-02053-9

PMID: 32552793

Abstract

Mapping

Mendelian

Negative WES

RNA-based diagnostics

Transcriptomics

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Title: Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
Creators - without role: Sateesh Maddirevula - King Faisal Specialist Hospital & Research Centre
Hiroyuki Kuwahara - King Abdullah University of Science and Technology
Nour Ewida - King Faisal Specialist Hospital & Research Centre
Hanan E. Shamseldin - King Faisal Specialist Hospital & Research Centre
Nisha Patel - King Faisal Specialist Hospital & Research Centre
Fatema Alzahrani - King Faisal Specialist Hospital & Research Centre
Tarfa AlSheddi - Riyadh, Saudi Arabia
Eman AlObeid - King Faisal Specialist Hospital & Research Centre
Mona Alenazi - King Faisal Specialist Hospital & Research Centre
Hessa S. Alsaif - King Faisal Specialist Hospital & Research Centre
Maha Alqahtani - Riyadh, Saudi Arabia
Maha AlAli - Riyadh, Saudi Arabia
Hatoon Al Ali - King Faisal Specialist Hospital & Research Centre
Rana Helaby - King Faisal Specialist Hospital & Research Centre
Niema Ibrahim - King Faisal Specialist Hospital & Research Centre
Firdous Abdulwahab - King Faisal Specialist Hospital & Research Centre
Mais Hashem - Riyadh, Saudi Arabia
Nadine Hanna - Hôpital Bichat-Claude-Bernard
Dorota Monies - King Faisal Specialist Hospital & Research Centre
Nada Derar - King Faisal Specialist Hospital & Research Centre
Afaf Alsagheir - King Faisal Specialist Hospital & Research Centre
Amal Alhashem - Alfaisal University
Badr Alsaleem - King Fahd Medical City
Hamoud Alhebbi - Riyadh Armed Forces Hospital
Sami Wali - Riyadh Armed Forces Hospital
Ramzan Umarov - King Abdullah University of Science and Technology
Xin Gao - King Abdullah University of Science and Technology
Fowzan S. Alkuraya - King Faisal Specialist Hospital & Research Centre
Publication Details: Genome Biology, Vol.21(1), pp.145-145
Publisher: BioMed Central
Grant note: NA / ;
Identifiers: 9918655408331
Academic Unit: King Faisal University; King Abdulaziz City for Science & Technology; King Abdullah University of Science & Technology; Alfaisal University
Language: English
Resource Type: Journal article