PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants

por Bodea, Corneliu A., Mitchell, Adele A., Bloemendal, Alex, Day-Williams, Aaron G., Runz, Heiko, Sunyaev, Shamil R.
Publicado 2018

Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank

por Lassen, Frederik H., Venkatesh, Samvida S., Baya, Nikolas, Zhou, Wei, Bloemendal, Alex, Neale, Benjamin M., Kessler, Benedikt M., Whiffin, Nicola, Lindgren, Cecilia M., Palmer, Duncan S.
Publicado 2023

Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

por Sohail, Mashaal, Maier, Robert M, Ganna, Andrea, Bloemendal, Alex, Martin, Alicia R, Turchin, Michael C, Chiang, Charleston WK, Hirschhorn, Joel, Daly, Mark J, Patterson, Nick, Neale, Benjamin, Mathieson, Iain, Reich, David, Sunyaev, Shamil R
Publicado 2019

Inferring gene regulation from stochastic transcriptional variation across single cells at steady state

por Gupta, Anika, Martin-Rufino, Jorge D., Jones, Thouis R., Subramanian, Vidya, Qiu, Xiaojie, Grody, Emanuelle I., Bloemendal, Alex, Weng, Chen, Niu, Sheng-Yong, Min, Kyung Hoi, Mehta, Arnav, Zhang, Kaite, Siraj, Layla, Al' Khafaji, Aziz, Sankaran, Vijay G., Raychaudhuri, Soumya, Cleary, Brian, Grossman, Sharon, Lander, Eric S.
Publicado 2022

Paternal-age-related de novo mutations and risk for five disorders

por Taylor, Jacob L., Debost, Jean-Christophe P. G., Morton, Sarah U., Wigdor, Emilie M., Heyne, Henrike O., Lal, Dennis, Howrigan, Daniel P., Bloemendal, Alex, Larsen, Janne T., Kosmicki, Jack A., Weiner, Daniel J., Homsy, Jason, Seidman, Jonathan G., Seidman, Christine E., Agerbo, Esben, McGrath, John J., Mortensen, Preben Bo, Petersen, Liselotte, Daly, Mark J., Robinson, Elise B.
Publicado 2019

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

por Ganna, Andrea, Genovese, Giulio, Howrigan, Daniel P., Byrnes, Andrea, Kurki, Mitja, Zekavat, Seyedeh M., Whelan, Christopher W., Kals, Mart, Nivard, Michel G., Bloemendal, Alex, Bloom, Jonathan M., Goldstein, Jacqueline I., Poterba, Timothy, Seed, Cotton, Handsaker, Robert E., Natarajan, Pradeep, Mägi, Reedik, Gage, Diane, Robinson, Elise B., Metspalu, Andres, Salomaa, Veikko, Suvisaari, Jaana, Purcell, Shaun M., Sklar, Pamela, Kathiresan, Sekar, Daly, Mark J., McCarroll, Steven A., Sullivan, Patrick F., Palotie, Aarno, Esko, Tõnu, Hultman, Christina, Neale, Benjamin M.
Publicado 2016