Hi,

First, according to Sophia Genetics application note, SOPHiA DDM® is the platform of choice for clinicians performing routine diagnostic testing. Besides the sequence data analysis, including alignment up to annotated facilitated variants, SOPHiA DDM® comes with many other important functionalities for diagnosing the patients. From multiple panels of selected genes, genomes or exomes from sequenced patient DNA, up to variant report.

I would like to inform you that Sophia Genetics got a genomic pack called The Hereditary Cancer Solution (HCS). The Hereditary Cancer Solution (HCS) by Sophia genetics pack up the analytical power of Sophia.

If you do use the integrated library preparation and target capture kit, covering the following gene panel for testing cancer predisposing genes (CPG) in Hereditary Cancer Syndromes: ATM, APC, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, PMS2CL*, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, XRCC2; following are the genomic variants detected and annotated by Sophia Genetics using HCS for this integrated library preparation and target capture kit:

• SNVs, Indels and CNVs are accurately detected in all genes of the panel

• ALU insertions are reliably recognized

• Pseudogene variants are efficiently differentiated from real one.

In addition, if you are interested by new clinical genome resources developed by genomic firms in America, I’d like informing you that the genomic firm Golden Helix released recently a new workflow for the interpretation and reporting of Copy Number Variants in Concordance with the recently updated ACMG Guidelines.

For further details, refer to the following web link of Golden Helix:

(https://www.goldenhelix.com/forms/acmg-cnv-workflow-for-vsclinical.html)

If you do need further details about the updated guidelines for the interpretation and reporting of Copy Number Variants of The American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Ressource (ClinGen), please refer to the paper of Riggs et al published in Genet Med 22, 245–257 (2020).

Hope this helps.

Best regards

Prof. Farid Cherbal

USTHB, Algiers, Algeria

Many thanks Prof. @Cherbal. This is very helpful!