MOESM2 of Genome analysis and knowledge-driven variant interpretation with TGex

Dahary, Dvir; Golan, Yaron; Mazor, Yaron; Zelig, Ofer; Barshir, Ruth; Twik, Michal; Iny Stein, Tsippi; Rosner, Guy; Kariv, Revital; Chen, Fei; Zhang, Qiang; Shen, Yiping; Safran, Marilyn; Lancet, Doron; Fishilevich, Simon

doi:10.6084/m9.figshare.11480619.v1

12920_2019_647_MOESM2_ESM.pdf (127.76 kB)

MOESM2 of Genome analysis and knowledge-driven variant interpretation with TGex

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posted on 2019-12-31, 04:54 authored by Dvir Dahary, Yaron Golan, Yaron Mazor, Ofer Zelig, Ruth Barshir, Michal Twik, Tsippi Iny Stein, Guy Rosner, Revital Kariv, Fei Chen, Qiang Zhang, Yiping Shen, Marilyn Safran, Doron Lancet, Simon Fishilevich

Additional file 2. TGex report for the trichohepatoenteric syndrome Demo example

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Weizmann Institute of Science

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Next generation sequencing analysis Clinical variant interpretation and classification Exome sequencing Whole genome sequencing Non-coding variants Biomedical knowledgebase Rare genetic diseases Hamartomatous polyposis

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MOESM2 of Genome analysis and knowledge-driven variant interpretation with TGex

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Weizmann Institute of Science

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