Article
Analysis of 173,303 exomes and genomes in the Pakistan Genome Resource.
Nature - 1 Aug 2026
Koch Christopher, Khalid Shareef, Khan Maleeha Zaman, Bandyadka Shruthi, Doyon Brian, Denning Daniel P, Jahanzaib Muhammad, Mian Muhammad Rehan, Gul Wafa, Liaqat Muhammad Bilal, Bano Aneeqa, Dahar Marium, Saqib Namra, Kamani Lubna, Butt Nazish, Jalal Anjum, Sultana Riffat, Abbas Shahid, Siddiqeh Musfireh, Haroon Muhammad, Khan Asadullah, Babar Khalid Parvez, Rasheed Aflak, Iqbal Javed, Aslam Faizan, Usman Umar, Bajwa Muhammad Akram, Hyder Ali, Memon Muhammad Sadik, Hashmani Nauman, Haroon Mohsin Iqbal, Muddassir Ambreen, Zaidi Syed Asif Raza, Akram Mateen, Hussain Muhammad, Mohsin Saima Naz, Bugti Samreen, Mehmood Tariq, Rodeni Abdul Lateef, Mukhtar Shahid, Rasool Tahir, Mahmood Adil, Wazir Muhammad Noor, Khan Sheraz Jamal, Khan Muhammad Asghar, Ghaffar Rahmat, Jan Sanaullah, Ul Hadi Noor, Anjum Roshina, Abdullah Rehan, Musharraf Muhammad Usman, Bashir Muhammad Tahir, Ali Muhammad, Majeed Irfan, Bilal Muhammad Haroon, Khan Shahzad Ali, Hata Chihiro, Kou Ikuyo, Asaumi Makoto, Morii Wataru, Smith Katherine R, Kundu Kousik, Lythgow Kieren, MacArthur Stewart, Wasilewski Sebastian, Petrovski Slavé, Rodriguez-Flores Juan L, Riaz Moeen, Kapoor Manav, Backman Joshua D, Shuldiner Alan R, Bradner James E, Splawski Igor, Rasheed Asif, Dominy John E, Gurtan Allan M, Saleheen Danish
Abstract excerpt
Naturally occurring loss-of-function variants in human genes enable drug target discovery because they mimic pharmacological inhibition of proteins. However, the study of these genetic variants is constrained by their rarity. Sequencing of diverse populations, particularly those enriched in familial relatedness, has been postulated to promote discovery of rare genetic variants1-3. Here we present the Pakistan...
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