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2 hours ago by


I have a few queries, if anyone would kindly classify it would be really helpful.

  1. when a heterozygous single variant for an autosomal recessive disorder classified as likely pathogenic and could not find second significant heterozygous variant, but this variant matches the phenotype of the patient, in this case should this variant be reported as a causative mutation or as actionable mutation? and what would be the next step? validate the variant with sanger or any new strategy to find the second significant heterozygous variant?

  2. What can be done when no significant variant was detected using clinical exome sequencing? How do we decide the next strategy to find the causative mutation?

  3. I have a few SNVs and CNVs found using clinical exome sequencing, i want validate these variants for publication what are the methods/strategies can i use to validate these variants? for example for SNV sanger and for CNV MLPA, what are the other methods?

Any help would be much appreciated

Thank you


2 hours ago


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