Article

Regional-specific calibration enables application of bioinformatic evidence for clinical classification of 5’ cis-regulatory variants in Mendelian disease

2023-12-24

Abstract excerpt

To date, clinical genetic testing and approaches to classify genetic variants in Mendelian disease genes have focused heavily on exonic coding and intronic gene regions. This multi-step study was undertaken to provide an evidence base for selecting and applying bioinformatic approaches for use in clinical classification of 5’ cis-regulatory region variants. Curated datasets of rare clinically reported disease-caus...

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Literature Corpus work: 208df432-cdac-5d11-b3ff-6cd45e6719f1
DOI: 10.1101/2023.12.21.23300413

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