Article

Diagnostic germline genetic variant classification requires more equitable representation in reference databases

2024-04-28

Abstract excerpt

Germline genetic testing can aid in difficult diagnostic workups but may reveal variants of unknown significance (VUS), which do not alter patient management or provide definitive diagnoses and may worsen stress on patients and families. VUS are more prevalent in underrepresented populations given their absence in large scale genomic studies. We describe seven pediatric hematology/oncology patients seen in the hig...

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Literature Corpus work: 34f49323-3099-5b20-8c50-68ae87dbd3fc
DOI: 10.22541/au.171429588.85775791/v1

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