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Albert Vilella, PhD.
@albertvilella.bsky.social
Bioinformatics Scientist / Next Generation Sequencing / Single Cell and spatial biology / Next Generation Proteomics / Liquid Biopsy/ SynBio / Compute Acceleration // albertvilella.substack.com
2.8k followers6k following483 posts
AValbertvilella.bsky.social

as well as FoundationOne Heme for hematological malignancies. www.genomeweb.com/cancer/found...

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AValbertvilella.bsky.social

I think they limit the number of tokens and cap the context in the free msft copilot version, but other than that, it's the same model.

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AValbertvilella.bsky.social

So top marks for ChatGPT4 MSFT Copilot, with ChatGPT 3.5 close behind. Bard was correct on the first half of the BCSQ explanation, but incorrect on the second half.

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AValbertvilella.bsky.social

ChatGPT4 continues: "This annotation can provide information such as the gene name, transcript ID, amino acid change, and consequence type of the variant." Also a useful addition to the explanation.

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AValbertvilella.bsky.social

So ChatGPT4 is able to describe the relevant tool or section of the VCF format (bcftools csq). I wouldn't have used the term "meta-information section", rather POS or position of the variant consequence.

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AValbertvilella.bsky.social

ChatGPT4 MSTF Copilot: BCSQ=@1887 means the variant has a functional imparct annotation encoded by the BCSQ tag, which is defined by the bcftools csq tool. The value @1887 is a reference to the meta-information section of the VCF file, whre the actual annotation is stored.

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AValbertvilella.bsky.social

.... it continues: This score is likely calculated using the Bayesian Confidence Score (BCS) method, which takes into account various factors like mapping quality, variant frequency, and strand bias. I don't think this is correct, I think BCS is unrelated.

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AValbertvilella.bsky.social

Bard 2024-01-25: BCSQ=@1887: This refers to a quality score for the variant call stored at another location in the VCF file (at line 1887). This is mostly correct.

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AValbertvilella.bsky.social

and the @1887 likely represents a reference to another field or database with more detailed information about the base change at this variant position. This is mostly correct.

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AValbertvilella.bsky.social

ChatGPT 3.5: BCSQ=@1887: This part is more specific and might be specific to the variant caller or pipeline used. It appears to be referring to a BCSQ (Base Change and Quality Sequence) annotation, ...

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AV
Albert Vilella, PhD.
@albertvilella.bsky.social
Bioinformatics Scientist / Next Generation Sequencing / Single Cell and spatial biology / Next Generation Proteomics / Liquid Biopsy/ SynBio / Compute Acceleration // albertvilella.substack.com
2.8k followers6k following483 posts