Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes

  title={Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes},
  author={F Lescai and Silvia Bonfiglio and Chiara Bacchelli and Estelle Chanudet and Aoife Waters and Sanjay M. Sisodiya and Dalia Kasperavi{\vc}iūtė and Julie Williams and Denise Harold and John S. Hardy and Robert Kleta and Sebahattin Çirak and Richard Williams and John C Achermann and John Flake Anderson and David P. Kelsell and Tom Vulliamy and Henry Houlden and Nicholas L Wood and Una Sheerin and Gian Paolo Tonini and D. Scott Mackay and Khalid Hussain and Jane C. Sowden and Veronica A Kinsler and Justyna Osińska and Tony S Brooks and Michael Hubank and Philip Beales and Elia Stupka},
  booktitle={PloS one},
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 complex diseases remains so far elusive. Despite rapid advances… CONTINUE READING