The use of segregation analysis in interpretation of sequence variants in SMAD3: A case report
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DOI: 10.1002/mgg3.2107
Abstract: While representing a significant improvement, the introduction of next‐generation sequencing in genetic diagnosis also prompted new challenges. Despite widely recognized consensus guidelines for the interpretation of sequence variants, many variants remain unclassified or are discordantly… read more here.
Keywords: sequence variants; interpretation sequence; segregation analysis;