The genomic landscape of rare disorders in the Middle East.

Maha El NaofalSathishkumar RamaswamyAli AlsarhanAhmed NugudFatima SarfrazHiba JanbazAlan TaylorRuchi JainNour HalabiSawsan YaslamRoudha AlfalasiShruti ShenbagamFatma RabeaMartin BitzanLemis YavuzDeena WafadariHamda AbulhoulShiva ShankarMunira Al MaazmiRuba RizkZeinab AlloubHaitham ElbashirMohamed O E BabikerNidheesh ChencheriAmmar AlBannaMeshal SultanMohamed El BitarSafeena KheraniNandu ThalangeSattar AlshrydaRoberto Di DonatoChristos TzivinikosIbrar MajidAlexandra F FreemanCorina GonzalezArif O KhanHisham HamdanWalid AbuhammourMohamed AlAwadhiAbdulla AlKhayatAlawi Alsheikh-AliAhmad N Abou Tayoun

Published in: Genome medicine (2023)

Early access to genomic diagnostics for patients with suspected rare disorders in the Middle East is likely to improve clinical outcomes while driving gene discovery in this genetically underrepresented population.

Keyphrases

copy number
small molecule
genome wide
single cell
gene expression
transcription factor