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How to find a better performance NIPT analysis scripts ?

HI, I wanna find a NIPT pipeline ,but I do not which is better pipeline ? So can you recommend a complete pipeline scripts ?

thank you !!!

genome r gene next-gen sequencing
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updated by Roy • Roy • written by winter_li • winter_li

For what data source? Array? NGS? In what language? For what disorders?

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written by User 59 User 59

HI, data source is WGS data of next generation sequencing . R and Perl ,or python , better perl . T21，T13 and T18.

Thank you !

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written by winter_li • winter_li

1 answer

I'm the author of this set of scripts: https://github.com/rstraver/wisecondor

It seems rather popular and is used in several medical centres across the world for diagnostics on calling T13 T18 and T21. Feel free to ask questions on my work if you need help.

As for other works, I think RAPIDR is the most recent package I heard of in papers. I don't have a full list ready of alternative packages but most comparisons I've seen lately are between this and my work.

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written by Roy • Roy

The OP has gone on to use RAPIDR according to more recent posts asking for further help, so an alternative may be welcome for them!

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written by User 59 User 59

HI , OP ? what's the full name of OP ?

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written by winter_li • winter_li

OP is shorthand for Original Poster, which is you in this specific case, winter_li ;)

I also realised you went with RAPIDR from your posts (as Daniel Swan noted), after I submitted my response.

I see you asked a few more things now, but I'm not exactly hanging around on biostars on a daily basis, sorry for that. Happy to learn you found you could also ask through GitHub!

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written by Roy • Roy

thank you ,Roy, I will have a try .

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written by winter_li • winter_li

HI , I need to cut adapter sequence from single-end fastq of NIPT ? which tool should use ?

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written by winter_li • winter_li

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