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Kayla S and Kathryn M are working with Heidi on a CS project. They requested the following report from ClinVar.
https://the-tgg.slack.com/archives/C06KPQN2ZNW/p1708535191518009
@Larry Babb (he/him)
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Re-work the categories to adjust to the facts:
- Support (determined through _in silico_ predictors) largely overlaps with Cat6 (AlphaMissense prediction)
- c6/AM is noisy for cohorts without family…
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New term request Conjunctival biopsy: spheroids (segal_110421155504):
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**Is your feature request related to a problem? Please describe.**
We currently do not explain well the ACMG criteria filled out by InterVar and AutoCNV.
**Describe the solution you'd like**
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Nice tool!
Is there any threshold (or range) applicable to select the most pathogenic SVs?
PSV results went from 1.38 to 218.49.
Also, do you recommend that even with a low psv in one sample it…
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Hello, I am a PhD student in molecular medicine. In my group we are interested in launching SAGE to do a variant-calling in human tumors.
From what I see in the documentation, we need a file with …
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Dear Orphanet team,
We received a request from a coder regarding **Lynch syndrome (ORPHA:144).**
She wonders why this syndrome is considered rare and if she should register these patients in our…
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Hello Veronique,
Hope you are doing great.
In annotations, I have noted that certain P_loss_coordinates are coming from Hg19 reference coordinates, despite I have provided the Hg38 mode in the …
Mkddb updated
6 months ago
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I'd like to request a term for microcephaly, short stature, and limb abnormalities.
OMIM: https://omim.org/entry/617604. DONSON is also associated with a more severe phenotype, https://www.omim.org…
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Let's try to see if we can use the vep version found in nf-core modules rather than the local module.
Also version 111 is out, but that requires an update of the nf-core module. Version 111 has su…