Author

Sitao Wu

Ambry Genetics (United States)ORCID 0000-0002-4740-8885Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Aarno V. PalotieiD· 2 shared Bernd Axel NeubaueriD· 2 shared Bobby P.C. KoelemaniD· 2 shared Dennis LaliD· 2 shared Ingo HelbigiD· 2 shared Jack A. KosmickiiD· 2 shared Katherine L. HelbigiD· 2 shared Mark J. DalyiD· 2 shared

Activity by Year

2017-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Aarno V. PalotieORCID

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2 papers

Recent·Most cited

De novo Variants In Neurodevelopmental Disorders With Epilepsy

Henrike Heyne, Tarjinder Singh, Hannah Stamberger, Rami Abou Jamra, Hande Çağlayan, Dana Craiu, Peter De Jonghe, Renzo Guerrini, Katherine L. Helbig, Bobby P.C. Koeleman, Jack A. Kosmicki, Tarja Linnankivi, Patrick May, Hiltrud Muhle, Rikke Steensbjerre Møller, , Johannes R. Lemke

The paper identifies de novo variants in neurodevelopmental disorders with epilepsy and finds associations with specific genes and clinical features.

Nature Genetics · Jun 22, 2018Peer-reviewedGenetics

Gene family information facilitates variant interpretation and identification of disease-associated genes

Dennis Lal, Patrick May, Kaitlin E. Samocha, Jack A. Kosmicki, Elise Robinson, Rikke Steensbjerre Møller, Roland Krause, Peter Nüernberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa M. Neupert, Juliana Du, Eduardo Pérez‐Palma, Carla Marini, , Mark J. Daly

The paper develops a paralog conservation score to identify disease-associated genes and shows that disease variants are enriched at conserved sites across gene families.

bioRxiv · Jul 5, 2017 · PreprintGenetics