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WGLab / InterVar

A bioinformatics software tool for clinical interpretation of genetic variants by the 2015 ACMG-AMP guideline
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OMIM databases update #34

Open soymintc opened 5 years ago

soymintc commented 5 years ago

Hello, InterVar databases seem to need update regarding the OMIM database domain. Some variants, while the corresponding phenotypes well annotated in the recent OMIM, are nonexistent in the mim_pheno.txt file. Currently I'm improvising by updating the mim_pheno.txt file myself, but it would be nice if you could do a systematic update. Thank you. Best, Seomgin

quanliustc commented 5 years ago

HI Seomgin,

Thanks for the reminding,

I will update all the information related with OMIM.

Best,

Quan Li,Ph.D

mailto:leequan@gmail.com leequan@gmail.com

mailto:Quan.Li@uhnresearch.ca Quan.Li@uhnresearch.ca

http://www.quanli.tk http://www.quanli.tk

From: Seongmin Choi [mailto:notifications@github.com] Sent: Wednesday, September 12, 2018 1:03 AM To: WGLab/InterVar InterVar@noreply.github.com Cc: Subscribed subscribed@noreply.github.com Subject: [WGLab/InterVar] OMIM databases update (#34)

Hello, InterVar databases seem to need update regarding the OMIM database domain. Some variants, while the corresponding phenotypes well annotated in the recent OMIM, are nonexistent in the mim_pheno.txt file. Currently I'm improvising by updating the mim_pheno.txt file myself, but it would be nice if you could do a systematic update. Thank you. Best, Seomgin

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VivekTodur commented 5 years ago

Hello Dr. Quan Li,

Most of the databases becoming outdated. Can you help us a way to update the DB files? Maybe a short tutorial on obtaining and converting/formatting the files would be really appreciated.

Thank You, Vivek

quanliustc commented 5 years ago

some db files were ready, will release all the updated dbs soon.

VivekTodur commented 5 years ago

Hello Dr. Quan, Thank you for your update, will look forward to the release...

Best, Vivek

ngslabex commented 5 years ago

Hello Dr. Quan Li, How long does it take to release the new databases? Thanks, Ersan