Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

by Roddy Walsh, Francesco Mazzarotto, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Nicholas Li, Leanne Felkin, Nathan Ingold, Risha Govind, Mian Ahmad, Erica Mazaika, Mona Allouba, Xiaolei Zhang, Antonio de Marvao, Sharlene M. Day, Euan Ashley, Steven D. Colan, Michelle Michels, Alexandre C. Pereira, Daniel Jacoby, Carolyn Y. Ho, Kate L. Thomson, Hugh Watkins, Paul J. R. Barton, Iacopo Olivotto, Stuart A. Cook, James S. Ware
Published 2019-01-01

The architecture of gene regulatory variation across multiple human tissues: the MuTHER study.

by Alexandra C Nica, Leopold Parts, Daniel Glass, James Nisbet, Amy Barrett, Magdalena Sekowska, Mary Travers, Simon Potter, Elin Grundberg, Kerrin Small, Asa K Hedman, Veronique Bataille, Jordana Tzenova Bell, Gabriela Surdulescu, Antigone S Dimas, Catherine Ingle, Frank O Nestle, Paola di Meglio, Josine L Min, Alicja Wilk, Christopher J Hammond, Neelam Hassanali, Tsun-Po Yang, Stephen B Montgomery, Steve O'Rahilly, Cecilia M Lindgren, Krina T Zondervan, Nicole Soranzo, Inês Barroso, Richard Durbin, Kourosh Ahmadi, Panos Deloukas, Mark I McCarthy, Emmanouil T Dermitzakis, Timothy D Spector, MuTHER Consortium
Published 2011-02-01