Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

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Bibliographic Details
Title: Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
Authors: AlAbdi, Lama1,2 (AUTHOR), Shamseldin, Hanan E.2 (AUTHOR), Khouj, Ebtissal2 (AUTHOR), Helaby, Rana2 (AUTHOR), Aljamal, Bayan2 (AUTHOR), Alqahtani, Mashael2 (AUTHOR), Almulhim, Aisha1,2 (AUTHOR), Hamid, Halima1,2 (AUTHOR), Hashem, Mais O.2 (AUTHOR), Abdulwahab, Firdous2 (AUTHOR), Abouyousef, Omar2 (AUTHOR), Jaafar, Amal2 (AUTHOR), Alshidi, Tarfa2 (AUTHOR), Al-Owain, Mohammed3,4 (AUTHOR), Alhashem, Amal4,5 (AUTHOR), Al Tala, Saeed6 (AUTHOR), Khan, Arif O.7,8 (AUTHOR), Mardawi, Elham9 (AUTHOR), Alkuraya, Hisham10 (AUTHOR), Faqeih, Eissa11 (AUTHOR)
Source: Genome Medicine. 12/14/2023, Vol. 15 Issue 1, p1-16. 16p.
Database: Academic Search Ultimate
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ISSN:1756994X
DOI:10.1186/s13073-023-01270-8