Article

Genome Alert!: a standardized procedure for genomic variant reinterpretation and automated genotype-phenotype reassessment in clinical routine

2021-07-15

Abstract excerpt

Numerous countries have set up population genomics plans, allowing an unprecedented growth in the ability of interpreting variants in human diseases. Retrospective interpretation of sequenced data in the light of the current literature is a major concern of the field. Moreover, such reinterpretation is manual and both the human resources and the variable operating procedures are main bottlenecks. This work describ...

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Literature Corpus work: d7970e65-b98f-5230-8d14-01be7b44da1f
DOI: 10.1101/2021.07.13.21260422

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