Nomenclature updates

[Nerea Carvajal Garcia]

Dear HGSV teams

I have downloaded the 2016 update where it says to use LRG ref seq but I have read that now we have to use the MANE SELECT seq. Is there an update? I have not found nothing more recent than 2016 HGSV nomenclature

Best

Nerea

Nerea Carvajal García Bióloga  Anatomía Patológica - Patología Molecular
	Hospital Fundación Jiménez Díaz Avda. Reyes Católicos, 2. 28040 Madrid (España) +34 91 550 48 00 - +34 00 000 00 00 Ext: 2229. www.quironsalud.es

  

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[Johan den Dunnen]

Dear Nerea,

please note that updates to the HGVS nomenclature are published on the nomenclature website (see https://hgvs-nomenclature.org > versioning), not per se through publication in a scientific journal.

Best regards,

Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)
http://www.HGVS.org/varnomen

Op maandag 11 november 2024 om 09:14:26 UTC+1 schreef Nerea Carvajal Garcia:

[Reece Hart]

Hi Narea-

In addition to Johan's comments, here's a link to the specific section regarding the use of MANE transcripts:

https://hgvs-nomenclature.org/stable/background/refseq/#dna-coding-dna-reference-sequence-c

We have a manuscript in review that describes changes since the last publication, including the adoption of MANE transcripts. A preprint is available at https://osf.io/preprints/osf/92gfd. 

-Reece

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