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Chromosomal Abnormalities · Changes

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Typo fixed authored Mar 23, 2023 by Neethu Shah's avatar Neethu Shah
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Chromosomal-Abnormalities.md
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* Aim is to have descriptors that cover additional human genome variants, in this case large chromosomal abverrations, to support imminent new curation activities by the ACI group.
* Aim is to have descriptors that cover additional human genome variants, in this case large chromosomal aberrations, to support imminent new curation activities by the ACI group.
* By having proposed descriptors that clearly/uniquely cover such variants, the ACI members can fill in the agreed upon descriptor syntax now, even in advance of CAR extension support for these.
* Furthermore, as "proposed" descriptors the descriptors documented below _may change to a very different form_ when fully implemented in the registry. In particular, ones that are weakly coordinate based may become overtly coordinate based for registration.
* However, because they cover generic classes of aberration and are specific to those, and because they follow existing (CNV) and planned SV descriptor conventions, we anticipate any syntax changes will be easily transformable via data migration code and not require user effort to convert.
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