Article
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
Genome medicine - 14 Dec 2023
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, Alkuraya Fowzan S
Abstract excerpt
BACKGROUND: 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. METHODS: In a cohort of 34 families in which the suspected autosomal recessive diseases remained undiagnosed by exome sequencing, lrWGS was performed on the Pacific...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.