New in emedgene 2.24-2.25 (Aug 11, 2021)
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You can now on the emedgene platform, using a streamlined workflow that makes it easy to focus your analysis on the clinically meaningful variants.
Our secondary analysis pipeline uses and leverages improved quality metrics to help reduce the number of variants for review,
We also support VCF files from , , and .
genes,
transcripts,
known disease-causing variants (MITOMAP).
Stay tuned for the curated data sharing between partner organizations!
you need to complement NGS with data from other genetic tests (long-read sequencing, optical mapping, CGH, SNP array, karyotyping/FISH, repeat-primed PCR, MLPA, Southern blot, etc);
you want to report a few adjacent variants as a single multi-nucleotide variant.
Supported variant types are SNV, CNV, UPD, ROH, and STR. SV is coming soon!
You can focus on mtDNA variants by using the updated mtDNA filter in the . The filter can be added to your custom presets.
The and reflect basic mtDNA variant annotations including:
population annotations (gnomAD and ),
Missense Prediction scores ( and ),
The ACMG SNV Classification wizard is now . It utilizes only relevant ACMG criteria and automatically defines the resulting ACMG class based on the manually assigned criteria.
is a new section of the that highlights information on previous variant curation activity (i.e., assigning a and/or assigning Pathogenicity and/or adding Variant Interpretation notes).
You can now not present in the VCF or not called from FASTQ to your case. This is useful when:
We now support using DRAGEN. High precision and recall are achieved through a lab-optimized panel of normals (PON). Results vary per laboratory/sample preparation protocol, and validation is performed upon request.
The now includes a Test Subject VCF track presenting proband's variants stored in the VCF file.
