Open mbaudis opened 2 years ago
One thing I would add to this proposal is a clear definition of what constitutes low-level gain vs amplification. I have heard amplification loosely defined as >=8 allele copies in a diploid genome. I do not have any strong preference as to what this cutoff is, only that it is clearly specified in the definition. We should seek to align with definitions from a prominent authority.
For "homozygous deletion" entry perhaps we generalize this to "complete CN loss" or similar? Homozygous as a term is strongly tied to diploid genetics.
@ahwagner Great comments; supporting the "high level" statement with some literature/references is an obvious need (as are some other definitions - I just wanted to provide a draft for discussions...); and I agree w/ the complete >> homozygous (had the same feeling but didn't follow up -> waiting for voices :-)
There are different cut-off values in terms of amplification (which also makes me confused):
amplification:
average genome ploidy <= 2.7 AND total copy number >= 5
OR average genome ploidy > 2.7 AND total copy number >= 9
amplification: >8 copies
amplification: >5 copies
amplification: >=5 copies
Pinging @egchr ...
@hangjiaz @ahwagner So this is rather consistent for a CN >= 5 on ploidy of ~2, w/ sometimes higher values used w/o defined baseline. However, I would just provide this as a reference, not as a prescription.
I have made some changes; pls. see the updated tree ...
The new tree is now reflected in EFO, including the the high-level copy number loss
class added during GA4GH VRS 1.3. alignment.
What is this request referring to? Result of genomic copy number assessment of a genomic element or region
What is the name you would like SO to give the term?
copy number assessment
and child termsWhat is the definition that you would like for this term? Assessment of the copy number of a genomic feature or region, referenced to the expected allele count in the given sample. Examples of an expected count would ne:
low-level copy number loss
Synonyms The root term would be equal to "CNV assessment" or CNV evaluation"; details for the child terms will be added while developing this proposal.
Parent Term sequence_comparison (SO: 0002072)
This seems to be the most fitting term but suggestions welcome.
Relevant Publications During the development of GA4GH Beacon v2 structural query documentation we found a lack of a consistent representation of CNV events and incomplete overlap between the concepts used in the "CNV community" (rare diseases and cancer) and SO representation. Adding @dsalgado, @ahwagner and @babisingh to the conversation.
This proposal relates to the need for the GA4GH VRS standard - but also in general for clarity about reporting CNVs - to have a documented set of terms to refer to. Note here https://github.com/ga4gh/vrs/issues/277
Updated on 2022-01-14 w/ some re-wording and addition of
focal genome amplification