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URL: http://sourceforge.net/projects/gesnd/
Proper Citation: GESND (RRID:SCR_005179)
Description: A software package and a pipeline for identifying causal mutations for rare congenital diseases by next-generation sequencing. Features * one-stop solution for identifying causal mutations of rare genetic diseases * detect wide-spctrum variants, including medium and large sized indels, and tandem repeats * annotate and filter variants * prioritize candidate variants
Abbreviations: GESND
Synonyms: Genetic Screening and Diagnosis, GESND - Genetic Screening and Diagnosis
Resource Type: software resource
Keywords: next-generation sequencing, mutation, variant, indel, tandem repeat
Related Condition: Rare congenital disease
Resource Name: GESND
Resource ID: SCR_005179
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Source: SciCrunch Registry (RRID:SCR_005400)
Description: Interactive portal for finding and submitting biomedical resources. Resources within SciCrunch have assigned RRIDs which are used to cite resources in scientific manuscripts. SciCrunch Registry, formerly NIF Registry, provides resources catalog. Allows to add new resources. Allows edit existing resources after registration. Curators are tasked with identifying and registering resources, examining data, writing configuration files to index and display data and keeping contents current.
URL: https://rrid.site/rin/sources/SCR_005400
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