Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Tessa Gillett"'
Autor:
Patrick Deelen, Sipko van Dam, Johanna C. Herkert, Juha M. Karjalainen, Harm Brugge, Kristin M. Abbott, Cleo C. van Diemen, Paul A. van der Zwaag, Erica H. Gerkes, Evelien Zonneveld-Huijssoon, Jelkje J. Boer-Bergsma, Pytrik Folkertsma, Tessa Gillett, K. Joeri van der Velde, Roan Kanninga, Peter C. van den Akker, Sabrina Z. Jan, Edgar T. Hoorntje, Wouter P. te Rijdt, Yvonne J. Vos, Jan D. H. Jongbloed, Conny M. A. van Ravenswaaij-Arts, Richard Sinke, Birgit Sikkema-Raddatz, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Lude Franke
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
A genetic diagnosis remains unattainable for many individuals with a rare disease because of incomplete knowledge about the genetic basis of many diseases. Here, the authors present the web-based tool GADO (GeneNetwork Assisted Diagnostic Optimizatio
Externí odkaz:
https://doaj.org/article/8256eeb26c5746a9a9e8d6dcd1fd68ae
Autor:
Richard J. Sinke, Lude Franke, Patrick Deelen, Sipko van Dam, Edgar T. Hoorntje, Jan D. H. Jongbloed, Roan Kanninga, Juha Karjalainen, Kristin M. Abbott, Wouter P. te Rijdt, Evelien Zonneveld-Huijssoon, Sabrina Z. Jan, Wilhelmina S. Kerstjens-Frederikse, Erica H. Gerkes, Pytrik Folkertsma, Morris A. Swertz, Harm Brugge, Yvonne J. Vos, Johanna C. Herkert, Jelkje J Boer-Bergsma, Peter C. van den Akker, Tessa Gillett, Birgit Sikkema-Raddatz, Conny M. A. van Ravenswaaij-Arts, Cleo C. van Diemen, Paul A. van der Zwaag, K. Joeri van der Velde
Publikováno v:
Nature Communications, 10(1):2837. Nature Publishing Group
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Nature Communications
The diagnostic yield of exome and genome sequencing remains low (8–70%), due to incomplete knowledge on the genes that cause disease. To improve this, we use RNA-seq data from 31,499 samples to predict which genes cause specific disease phenotypes,
Autor:
Sabrina Z. Jan, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Pytrik Folkertsma, Peter C. van den Akker, K. Joeri van der Velde, Roan Kanninga, Johanna C. Herkert, Jan D. H. Jongbloed, Edgar T. Hoorntje, Richard J. Sinke, Lude Franke, Patrick Deelen, Erica H. Gerkes, Harm Brugge, Yvonne J. Vos, Sipko van Dam, Kristin M. Abbott, Tessa Gillett, Birgit Sikkema-Raddatz, Conny M. A. van Ravenswaaij-Arts, Cleo C. van Diemen, Paul A. van der Zwaag, Juha Karjalainen, Wouter P. te Rijdt
Clinical interpretation of exome and genome sequencing data remains challenging and time consuming, with many variants with unknown effects found in genes with unknown functions. Automated prioritization of these variants can improve the speed of cur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f7715c90d793401436b85ce3f668aec