The use of segregation analysis in interpretation of sequence variants in SMAD3: A case report.

Aleksandra Ratajska,Magnus D Vigeland,Katrine Verena Wirgenes,Kirsten Krohg-Sørensen,Benedicte Paus

Molecular genetics & genomic medicine（2023）

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摘要

Using the R package segregatr, cosegregation in the reported families concluded with strong and supporting evidence for pathogenicity. Surveillance of families in a multidisciplinary team enabling systematic phenotype description for standardized segregation analysis with a robust calculation method may be imperative for reliable variant interpretation in HTAAD.

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关键词

SMAD3 ,Loeys-Dietz syndrome,heritable thoracic aneurysms and dissections (HTAAD),next-generation sequencing,segregation analysis,variant interpretation

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