Interchanging variant nomenclature and syntax checking

Genomic Variant Analysis & Clinical Interpretation Course
Interchanging variant nomenclature and syntax checking
Ms. Aastha V from the CSIR Institute of Genomics & Integrative Biology (CSIR-IGIB) introduces the concepts of Interchanging variant nomenclature and syntax checking
More about the course and schedule is at gvaci.genomes....

[@madhavanjn]

Thank you so much for ur wonderful presentation, if possible upload command line tools for analysis, plz upload some more videos in clinical genomics.

[@pediatricianindia]

Missed the live session, but attended later.
Very Good session.

[@GenomicsInIndia]

Thanks for your feedback

[@ashavinay7707]

THANK YOU FOR THE LECTURE,HOW DO WE OBTAIN RSID FROM NMID/NPID

[@arthyshakthibalachandrasek7972]

Really great session. Thank you mam

[@priyankasarkar4637]

Insightful talk

[@GenomicsInIndia]

thanks for the fedback

[@abdulkaderibrahim2393]

Thank you for the time and effort 👍

[@bhavanasv]

Hello. thank you for the lecture. It's indeed very helpful.

[@hongloantran2454]

Thank for your video. Could I ask one more question? I would like to find a book about this kind of knowledge. Could you please give me an advice?

[@venkateshpochaboina]

Very informative

[@GenomicsInIndia]

Glad it was helpful!

[@nsankhyan]

Informative

[@gurudeebanselvaraj8888]

It is a great session about Mutalyzer and add-ins. Thanks, Ms.Aastha.
I have one question:
In the Batch Checker (position converter) results we are getting a number of coding variants (NM, NP, and LRG) for the input variant.
Ex. In the NM variants (XX52T>C, XX16 T>C, XX99 T>C, XX21 T>C, XX28 T>C). It means the T>C mutation can occur in any of the above positions in the particular gene (BRAC1) ---is it like that?
Please clarify me

[@aasthav1458]

Thank you for the question. The Position Converter tool will give you all the transcripts associated with the region of your variant. Each of your NM ID outputs have a different location (XX16, XX21 etc.) because they belong to either different transcripts (NM IDs) or different versions of the same transcript. So, it is the same T>C variant, but the positions numbers vary based on the NM ID or transcript considered.

[@gurudeebanselvaraj8888]

@@aasthav1458 Thanks for your response. I got it.

[@viswanathvittaladevaram4260]

Hi,thanks for the session.

[@priyankavenkatesh6405]

Hello. It was a very informative session

[@GenomicsInIndia]

Glad you liked it!

[@shailajas3228]

Very informative, thank you mam.

[@GenomicsInIndia]

Glad you liked it.

[@dhra100]

thank you

[@gauravkarve85]

@17.22 : - How do we derive the NP id from the information provided on screen ?

[@GenomicsInIndia]

This will be detailed in the next session. Meanwhile please find the lecture notes and videos for revision gvaci.genomes.in/schedule

[@sudarshanwagh4004]

Thank you for the session. Can the notes be made available by tonight, so that we can complete reading them beforehand for the quiz?

[@GenomicsInIndia]

The Lecture notes are now available on the course website gvaci.genomes.in/schedule

[@jayagandanj1772]

Eloquent!

[@GenomicsInIndia]

Thanks for your feedback

[@Bioprotech03]

what does LRG id denote?

[@GenomicsInIndia]

Locus Reference Genomic (LRG) record contains stable reference sequences that are used for reporting sequence variants with clinical implications . You could find more information at www.lrg-sequence.org/

[@Bioprotech03]

@@GenomicsInIndia thank you and how can I get the quize?

[@Bioprotech03]

and notes also? I didn't get for the last two sessions also.

[@GenomicsInIndia]

@@Bioprotech03 The notes for all sessions, Assignments and Quiz would be posted onine gvaci.genomes.in/schedule

[@GenomicsInIndia]

@@Bioprotech03 Would be available at gvaci.genomes.in/schedule

[@Bioprotech03]

when can I get my answers ?

[@GenomicsInIndia]

Replied below your comment already

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Thank you

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hi

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