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ACMG guidelines recommends to report "Mendelian type" variants not "GWAS type" variants. Pls read the guideline again -
Incidental findings according to ACMG recommendation
Dear All,
I have a question about how to report incidental findings in exome samples for the clinical diagnostic purposes.
I have read the ACMG recommendations for reporting incidental findings in patients and tried to filter out the pathogenic variants in the 56 genes suggested to be checked by ACMG.
When I filter out the variants using common polymorphisms in dbSNP142, the remaining pathogenic variants are mostly not so much. However, without this filtration there would be around 20 remaining variants on average that should be checked manually to investigate their probable pathogenicity.
Most of these variants are the common polymorphisms (reported through GWAS studies) which are associated with more common disorders and not the rare variants of monogenic disorders.
Since there is no accurate recommendation about the type of variants that should be reported to patients, I was wondering whether we should check these associated polymorphisms manually and investigate their effects in these disorders and then report them to patients, or we should just report the rare pathogenic variants (DM variants in HGMD) as incidental findings?
I am looking forward to hearing from you.
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Amplicon sequencing is a targeted approach that allows researchers to investigate specific regions of the genome. This technique is routinely used in applications such as variant identification, clinical research, and infectious disease surveillance. The amplicon sequencing process begins by designing primers that flank the regions of interest. The DNA sequences are then amplified through PCR (typically multiplex PCR) to produce amplicons complementary to the targets. RNA targets...03-21-2023, 01:49 PM -
Targeted sequencing is an effective way to sequence and analyze specific genomic regions of interest. This method enables researchers to focus their efforts on their desired targets, as opposed to other methods like whole genome sequencing that involve the sequencing of total DNA. Utilizing targeted sequencing is an attractive option for many researchers because it is often faster, more cost-effective, and only generates applicable data. While there are many approaches...03-10-2023, 05:31 AM
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