Exploring the genetic landscape of complex diseases using the recessive model
Contributors: Daly, Mark J.; Church, George M.; Warman, Matthew L.; Sunyaev, Shamil; Page, David C.
Published: 2014
Language: eng
Description: High-throughput sequencing technologies have changed the way we identify, study and understand the role of rare variation in Mendelian diseases. Sequencing in complex diseases have proven to be more challenging to interpret, but methods and approaches are being developed to aid in our understanding of variation in these diseases.
Notes: Keywords: complex disease, exome sequencing, rare variant, recessive.

Thesis Ph.D. Harvard University 2014