Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
超越外显子组：长读全基因组测序在外显子组阴性常染色体隐性遗传疾病中的应用
期刊:Genome Medicine
影响因子:10.4
doi:10.1186/s13073-023-01270-8
Lama AlAbdi, Hanan E Shamseldin, Ebtissal Khouj, Rana Helaby, Bayan Aljamal, Mashael Alqahtani, Aisha Almulhim, Halima Hamid, Mais O Hashem, Firdous Abdulwahab, Omar Abouyousef, Amal Jaafar, Tarfa Alshidi, Mohammed Al-Owain, Amal Alhashem, Saeed Al Tala, Arif O Khan, Elham Mardawi, Hisham Alkuraya,
