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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
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