TY - JOUR T1 - The promise of disease gene discovery in South Asia JF - bioRxiv DO - 10.1101/047035 SP - 047035 AU - Nathan Nakatsuka AU - Priya Moorjani AU - Niraj Rai AU - Biswanath Sarkar AU - Arti Tandon AU - Nick Patterson AU - Gandham SriLakshmi Bhavani AU - Katta Mohan Girisha AU - Mohammed S Mustak AU - Sudha Srinivasan AU - Amit Kaushik AU - Saadi Abdul Vahab AU - Sujatha M. Jagadeesh AU - Kapaettu Satyamoorthy AU - Lalji Singh AU - David Reich AU - Kumarasamy Thangaraj Y1 - 2017/01/01 UR - http://biorxiv.org/content/early/2017/06/06/047035.abstract N2 - The more than 1.5 billion people who live in South Asia are correctly viewed not as a single large population, but as many small endogamous groups. We assembled genome-wide data from over 2,800 individuals from over 260 distinct South Asian groups. We identify 81 unique groups, of which 14 have estimated census sizes of more than a million, that descend from founder events more extreme than those in Ashkenazi Jews and Finns, both of which have high rates of recessive disease due to founder events. We identify multiple examples of recessive diseases in South Asia that are the result of such founder events. This study highlights an under-appreciated opportunity for reducing disease burden among South Asians through the discovery of and testing for recessive disease genes. ER -