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DRB3 and DRB5 #14

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bsb2014 opened this issue Nov 8, 2023 · 15 comments
Open

DRB3 and DRB5 #14

bsb2014 opened this issue Nov 8, 2023 · 15 comments

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@bsb2014
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bsb2014 commented Nov 8, 2023

Hi, can SpecHLA type DRB3 and DRB5 as kourami? Thanks

@wshuai294
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Hello, now SpecHLA does not support DRB3 and DRB5.

@bsb2014
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bsb2014 commented Nov 8, 2023

Do you have any plans to make SpecHLA support additional HLAs?

@bsb2014
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bsb2014 commented Nov 8, 2023

How does the SpecHLA phase the variants when only short reads are used? Thanks

@wshuai294
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Yes. Our group is developing another package to support additional HLA genes. I will let you know once it is finished.

@wshuai294
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If the short reads cannot afford enough phase information, SpecHLA will use HLA database, genotype frequency, and pedigree information to phase the variants.

@bsb2014
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bsb2014 commented Nov 8, 2023

It would be great if the next release could type HLA using diploid assembly. Thanks

@wshuai294
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Great suggestion. We do have some code to extract the sequence of HLA genes from the diploid assembly. I will update SpecHLA to support typing from diploid assembly as soon as possible.

@wshuai294
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Hello,
Thanks for the valuable suggestion. As suggested, we added a module to support HLA typing from diploid assemblies (typing_from_assembly.py). Please see the changes in SpecHLA v1.0.3 or the latest commit.

@wshuai294 wshuai294 mentioned this issue Nov 9, 2023
@lidd77
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lidd77 commented May 17, 2024

Yes. Our group is developing another package to support additional HLA genes. I will let you know once it is finished.

Hello, shuai,
Are there any other tools can work for long read HLA typing ( nanopore sequencing) ?
if we just add DRB3/4/5 imgt sequence into SpecHLA db , SpeckHLA can detect accurately DRB3/4/5 allele ?

Expecting your reply !
thanks .

@wshuai294
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Hello,
Sorry for the delayed update. If you add DRB3/4/5 imgt sequence into SpecHLA db, it still needs some revisions in the scripts. I believe it will work well after some adjustments. I wonder do you have any benchmark data (with real data and ground truth)? With real benchmark data, we can add this function quickly.

Also, as I know HLA*LA also can work with nanopore sequencing data. But it might require too many computational resources. You can have a try on it.

Best,
Shuai

@lidd77
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lidd77 commented May 17, 2024

Hello, Sorry for the delayed update. If you add DRB3/4/5 imgt sequence into SpecHLA db, it still needs some revisions in the scripts. I believe it will work well after some adjustments. I wonder do you have any benchmark data (with real data and ground truth)? With real benchmark data, we can add this function quickly.

Also, as I know HLA*LA also can work with nanopore sequencing data. But it might require too many computational resources. You can have a try on it.

Best, Shuai

Yeah, I have got the benchmark data for A,B,C ,DRB1, DQA1,DQB1, DPA1, DPB1, DRB3/4/5 , that's why I hope you nice guy can support DRB3/4/5 as soon as possible .
could you update specHLA to support DRB3/4/5 this week ?
Thank you very much !!!

@wshuai294
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So great! We will update it very soon. This week is a little challenging but I believe we can finish it next week. Could you please send us the benchmark data, so that we can start to adjust the parameters.

@lidd77
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lidd77 commented May 17, 2024

So great! We will update it very soon. This week is a little challenging but I believe we can finish it next week. Could you please send us the benchmark data, so that we can start to adjust the parameters.

well, what is your email address ?

@wshuai294
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Thanks. My email is swang66-c@my.cityu.edu.hk

@lidd77
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lidd77 commented May 17, 2024

Thanks. My email is swang66-c@my.cityu.edu.hk

have sent my email , please check that ,thanks

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