Timothy Smith

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Johan T den Dunnen, Raymond Dalgleish, Donna R Maglott, Reece K Hart, Marc S Greenblatt, Jean McGowan-Jordan, Anne-Francoise Roux, Timothy Smith, Stylianos E Antonarakis, Peter EM Taschner

Journal article  |  2016  |  Human Mutation

The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of..

Harmonizing the interpretation of genetic variants across the world: the Malaysian experience.

Nik Norliza Nik Hassan, John-Paul Plazzer, Timothy D Smith, Hashim Halim-Fikri, Finlay Macrae, AAL Zubaidi, Bin Alwi Zilfalil, undefined Members of Malaysian Node of HVP

Journal article  |  2016  |  BMC Research Notes

BACKGROUND: Databases for gene variants are very useful for sharing genetic data and to facilitate the understanding of the geneti..

Digital curation of genetic variation data: defining and improving a methodology

Timothy David Smith

Thesis / Dissertation  |  2016

Databases of genetic variation are important tools for both medical research and clinical practice. They provide an insight into t..

Richard Graham Hay Cotton 1940-2015 OBITUARY

Tim Smith, Graham Taylor

Report  |  2015  |  Nature Genetics

Standard development at the Human Variome Project

Timothy D Smith, Mauno Vihinen

Journal article  |  2015  |  Database: the journal of biological databases and curation

Quality standards for DNA sequence variation databases to improve clinical management under development in Australia.

B Bennetts, M Caramins, A Hsu, C Lau, S Mead, C Meldrum, TD Smith, G Suthers, GR Taylor, RGH Cotton, V Tyrrell

Journal article  |  2014  |  Applied and Translational Genomics

Despite the routine nature of comparing sequence variations identified during clinical testing to database records, few databases ..

Beyond the genomics blueprint: the 4th Human Variome Project Meeting, UNESCO, Paris, 2012

Maija RJ Kohonen-Corish, Timothy D Smith, Helen M Robinson

Journal article  |  2013  |  Genetics in Medicine

Human variome project country nodes: Documenting genetic information within a country

George P Patrinos, Timothy D Smith, Heather Howard, Fand Al-Mulla, Lotfi Chouchane, Andreas Hadjisavvas, Sherifa A Hamed, Xi-Tao Li, Makia Marafie, Rajkumar S Ramesar, Feliciano J Ramos, Thomy de Rave, Mona O El-Ruby, Tilak Ram Shrestha, Maria-Jess Sobrido, Ghazi Tadmouri, Martina Witsch-Baumgartner, Bin Alwi Zilfali, Arleen D Auerbach, Kevin Carpenter, et al.

Journal article  |  2012  |  Human Mutation

KMD: A country-specific genetic variation resource for Korea

Timothy David Smith

Journal article  |  2012  |  HUMAN MUTATION

The Human Variome Project Beijing meeting

Timothy D Smith, Helen M Robinson, Richard GH Cotton

Journal article  |  2012  |  Journal of Medical Genetics