Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive...
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
About this item
Full title
Author / Creator
AlAbdi, Lama , Shamseldin, Hanan E. , Khouj, Ebtissal , Helaby, Rana , Aljamal, Bayan , Alqahtani, Mashael , Almulhim, Aisha , Hamid, Halima , Hashem, Mais O. , Abdulwahab, Firdous , Abouyousef, Omar , Jaafar, Amal , Alshidi, Tarfa , Al-Owain, Mohammed , Alhashem, Amal , Al Tala, Saeed , Khan, Arif O. , Mardawi, Elham , Alkuraya, Hisham , Faqeih, Eissa , Afqi, Manal , Alkhalifi, Salwa , Rahbeeni, Zuhair , Hagos, Samya T. , Al-Ahmadi, Wijdan , Nadeef, Seba , Maddirevula, Sateesh , Khabar, Khalid S. A. , Putra, Alexander , Angelov, Angel , Park, Changsook , Reyes-Ramos, Ana M. , Umer, Husen , Ullah, Ikram , Driguez, Patrick , Fukasawa, Yoshinori , Cheung, Ming Sin , Gallouzi, Imed Eddine and Alkuraya, Fowzan S.
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Long-read whole genome sequencing (lrWGS) has the potential to address the technical limitations of exome sequencing in ways not possible by short-read WGS. However, its utility in autosomal recessive Mendelian diseases is largely unknown.
In a cohort of 34 families in which the suspected autosomal recessive diseases remained undiagnosed by exom...
Alternative Titles
Full title
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
Authors, Artists and Contributors
Author / Creator
Shamseldin, Hanan E.
Khouj, Ebtissal
Helaby, Rana
Aljamal, Bayan
Alqahtani, Mashael
Almulhim, Aisha
Hamid, Halima
Hashem, Mais O.
Abdulwahab, Firdous
Abouyousef, Omar
Jaafar, Amal
Alshidi, Tarfa
Al-Owain, Mohammed
Alhashem, Amal
Al Tala, Saeed
Khan, Arif O.
Mardawi, Elham
Alkuraya, Hisham
Faqeih, Eissa
Afqi, Manal
Alkhalifi, Salwa
Rahbeeni, Zuhair
Hagos, Samya T.
Al-Ahmadi, Wijdan
Nadeef, Seba
Maddirevula, Sateesh
Khabar, Khalid S. A.
Putra, Alexander
Angelov, Angel
Park, Changsook
Reyes-Ramos, Ana M.
Umer, Husen
Ullah, Ikram
Driguez, Patrick
Fukasawa, Yoshinori
Cheung, Ming Sin
Gallouzi, Imed Eddine
Alkuraya, Fowzan S.
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_fd9de43c2bca4f7999135a735e07781d
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_fd9de43c2bca4f7999135a735e07781d
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-023-01270-8
