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

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...

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Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2012
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/a5b135f4e56341478420eb0c8b20e8d2
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https://doaj.org/article/a5b135f4e56341478420eb0c8b20e8d2

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