Exome sequencing: A transient technology for molecular diagnostics?

بواسطة Ku, C.-S., Cooper, D.N.
منشور في 2014

The 'sequence everything' approach and personalized clinical decision challenges

بواسطة Ku, C.-S., Cooper, D.N., Roukos, D.H.
منشور في 2014

From the periphery to centre stage: De novo single nucleotide variants play a key role in human genetic disease

بواسطة Ku, C.-S., Tan, E.K., Cooper, D.N.
منشور في 2014

Human genetics and genomics a decade after the release of the draft sequence of the human genome

بواسطة Naidoo, N., Pawitan, Y., Soong, R., Cooper, D.N., Ku, C.-S.
منشور في 2014

Exome sequencing: Dual role as a discovery and diagnostic tool

بواسطة Ku, C.-S., Cooper, D.N., Polychronakos, C., Naidoo, N., Wu, M., Soong, R.
منشور في 2014

Gene discovery in familial cancer syndromes by exome sequencing: Prospects for the elucidation of familial colorectal cancer type X

بواسطة Ku, C.-S., Cooper, D.N., Wu, M., Roukos, D.H., Pawitan, Y., Soong, R., Iacopetta, B.
منشور في 2014

Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis

بواسطة Ku, C.-S., Wu, M., Cooper, D.N., Naidoo, N., Pawitan, Y., Pang, B., Iacopetta, B., Soong, R.
منشور في 2014

Exome versus transcriptome sequencing in identifying coding region variants

بواسطة Ku, C.-S., Wu, M., Cooper, D.N., Naidoo, N., Pawitan, Y., Pang, B., Iacopetta, B., Soong, R.
منشور في 2014

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

بواسطة Ku, C.S., Polychronakos, C., Tan, E.K., Naidoo, N., Pawitan, Y., Roukos, D.H., Mort, M., Cooper, D.N.
منشور في 2014

Recommendations for a nomenclature system for human gene mutations

بواسطة Antonarakis, S.E., Ashburner, M., Auerbach, A.D., Beaudet, A.L., Beckmann, J.S., Beutler, E., Cooper, D.N., Cotton, R.G.H., Den Dunnen, J.T., Desnick, R.J., Eng, C., Fasman, K.H., Goldman, D., Hayashi, K., Hutchinson, F., Kazazian Jr., H.H., Keen, J., King, M.-C., Lehvaslaiho, H., McAlpine, P.J., McKusick, V., Motulski, A.G., Povey, S., Schorderet, D.F., Scriver, C.R., Shows Jr., T.B., Supertifurga, A., Tay, A.H.N., Tsui, L.-C., Valle, D., Vihinen, M.
منشور في 2014