Germline, hematopoietic, mosaic, and somatic variation: interplay between inherited and acquired genetic alterations in disease assessment

被引：0
作者：
Eric Q. Konnick
Colin C. Pritchard
机构：
[1] University of Washington Medical Center,Department of Laboratory Medicine
来源：
Genome Medicine | / 8卷
关键词：
Somatic Mutation; Lynch Syndrome; Pathogenic Variant; Cancer Predisposition; Variant Interpretation;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Advances in genetic analysis have revealed new complexities in the interpretation of genetic variants. Correct assessment of a genetic variant relies on the clinical context and knowledge of the underlying biology. We outline four scenarios encountered in genetic testing where careful consideration of the origin of genetic variation is required for variant interpretation.
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