Author

Sergi Castellví-Bel

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Biology Disciplines

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Bioinformatics· 1

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Research Focus:benchmarking· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

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Clara Esteban-Jurado· 1 shared Haiyuan YuiD· 1 shared Juan Felipe BeltrániD· 1 shared Sebastià Franch-Expósito· 1 shared Siwei CheniD· 1 shared Steven Lipkin· 1 shared Xiaomu WeiiD· 1 shared

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2016-2016 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperBioinformatics

Clara Esteban-Jurado

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1 paper

Recent·Most cited

BioinformaticsbioRxivMay 9, 2016

GeMSTONE: Orchestrated Prioritization of Human Germline Mutations in the Cloud

Siwei Chen, Juan Felipe Beltrán, Xiaomu Wei…·Haiyuan Yu

GeMSTONE is a cloud-based tool for prioritizing germline mutations from whole-genome/exome sequencing data, offering customizable workflows and reproducibility through recipe files.

DOI 10.1093/nar/gkx398

humanwhole-exome sequencing

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