Characterisation and validation of insertions and deletions in 173 patient exomes.

Recent advances in genomics technologies have spurred unprecedented efforts in genome and exome re-sequencing aiming to unravel the genetic component of rare and complex disorders. While in rare disorders this allowed the identification of novel causal genes, the missing heritability paradox in comp...

Full description

Saved in:

Bibliographic Details
Main Authors:	Francesco Lescai, Silvia Bonfiglio, Chiara Bacchelli, Estelle Chanudet, Aoife Waters, Sanjay M Sisodiya, Dalia Kasperavičiūtė, Julie Williams, Denise Harold, John Hardy, Robert Kleta, Sebahattin Cirak, Richard Williams, John C Achermann, John Anderson, David Kelsell, Tom Vulliamy, Henry Houlden, Nicholas Wood, Una Sheerin, Gian Paolo Tonini, Donna Mackay, Khalid Hussain, Jane Sowden, Veronica Kinsler, Justyna Osinska, Tony Brooks, Mike Hubank, Philip Beales, Elia Stupka
Format:	article
Language:	EN
Published:	Public Library of Science (PLoS) 2012
Subjects:	Medicine R Science Q
Online Access:	https://doaj.org/article/a5b135f4e56341478420eb0c8b20e8d2
Tags:	Add Tag No Tags, Be the first to tag this record!

Be the first to leave a comment!

Characterisation and validation of insertions and deletions in 173 patient exomes.

Similar Items