WGS Variant Calling: Variant calling with GATK - Part 1 | Detailed NGS Analysis Workflow

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  • Опубліковано 10 гру 2024

КОМЕНТАРІ • 86

  • @fesehaabebe-akele2684
    @fesehaabebe-akele2684 Рік тому +5

    Excellent work!! What makes this young lady standout is that she started with raw data and showed every step in clear terms. I have seen many "tutorials" and almost all started with munged data without showing what was done and how it was done leaving the beginner at a loss. Highly commendable work!

  • @enricoperez-kp8zc
    @enricoperez-kp8zc Рік тому +2

    Oh my god! You are awesome.
    Tu eres la mejor. You are the best.
    I have found finally someone who can explain the theory of what needs to be done, then do it on the command line, and then explain the reason why to use the terms. The pace is good but I also agree and I would like to suggest to give a bit of time to see what is written in the Terminal.
    I learnt so much from you in the past two days for watching your videos on GATK variant calling and analysis than the past two years trying to do it by myself.
    You make writing a script so easy, with explanations along the way.
    Please, keep doing these types of tutorials, so we can all benefit from these great tutorials. They make my life easier.
    My next tutorial with you in on RNA-seq. I already have done STAR, which it will be nice if you can do a tutorial, but if you think the way to go is HISAT2 then I am with you.
    Any tutorial on HISAT-3N soon on your channel?
    also it will be nice to explain how to install HISAT-3N step by step. I am still in the limbo with this one.

  • @kubracelikbas6606
    @kubracelikbas6606 Рік тому +9

    It would be very nice if you can also provide somatic variant analysis workflow

  • @taniadas3301
    @taniadas3301 2 роки тому +2

    Was waiting for this tutorial since so long 🥺

  • @PsycheSnacks657
    @PsycheSnacks657 2 роки тому +1

    Many many thanks!. You are helping a lot of folks out there. 😀

  • @tiagominuzzi5499
    @tiagominuzzi5499 Рік тому

    Great video! Thank you very much. I'm starting to work on this field, this video helped me a lot.

  • @srushtikunsavalikar3307
    @srushtikunsavalikar3307 8 місяців тому +1

    You are helping a lot ! Thank you so much 🤗

  • @jeetnanshi4357
    @jeetnanshi4357 10 місяців тому

    Hi, great information content in the video, just one suggestion, could you use some pointer or animations at each step so that it become interactive and keep track where you are talking. Thanks

  • @Sjjeien
    @Sjjeien 2 місяці тому

    Hy i was an aspiring bioinformatician. But by watching all those tutorials i feels that i would surely struggle to get a job in this competative field even though i learned python and r for this masters. I think its better as we are competing with cs grads than lifescience grads...
    So due to this uncertainity. Im about to take microbiology / biochemistry ...
    Not all our dream comes true. For me bioinfo was one such dream

  • @mockondo3011
    @mockondo3011 11 місяців тому +1

    Great tutorial, the best I’ve seen. I just had one quick question, what if I don’t have a known variants file to perform base quality recalibration? Should I just continue with the next steps using the deduplicated bam file?
    Hope you can help me with this, in any case, Thanks for the magnificent overview

  • @harshasatuluri4540
    @harshasatuluri4540 2 роки тому

    Thanks, madam, I am waiting for this tutorial!

  • @kumarparas5700
    @kumarparas5700 9 місяців тому

    Excellent Video Ma'am 👍

  • @kavoosmomeni4165
    @kavoosmomeni4165 9 місяців тому

    Very helpfull and informative, thank you!

  • @RaviKumar-wg9zm
    @RaviKumar-wg9zm Рік тому

    You are doing a great job ma'am.
    That was really helpful 😊👍

  • @emantoraih7700
    @emantoraih7700 2 місяці тому

    You are the best. Is there possibility to make similar videos for somatic mutations? Thanks.

  • @kajalpanchal8239
    @kajalpanchal8239 2 роки тому +1

    hey! you are really helping a lot ! Thaaaank you so much!

  • @ОПривет-ъ2ъ
    @ОПривет-ъ2ъ Рік тому

    Amazing tutorial! Thank so much for your work!

  • @ayeshatariq8094
    @ayeshatariq8094 2 роки тому +2

    Hi, thank you so much. Can you please make a video about how to compare two or more vcf files? e.g I want to extract variants that are different in sample vs group

    • @Bioinformagician
      @Bioinformagician  2 роки тому +1

      Thanks for the suggestion, will surely plan a video on it.

  • @ayushsafar6289
    @ayushsafar6289 2 роки тому

    you are really helping a lot ! Thaaaank you so much!

  • @Dalibenamor-j8f
    @Dalibenamor-j8f 28 днів тому

    Thank you for this very instructive tutorial. Do we use exactly the same pipeline (packages and tools) to process WES data?
    thank you in advance

  • @BilalAhmad-gb7ui
    @BilalAhmad-gb7ui 2 роки тому +1

    It would be great if you could please make another part to make the publication ready graphs and stuff like annotations from the raw vcf file.

  • @nikver1102
    @nikver1102 Рік тому +4

    This is high quality content! Very helpful and crystal clear! Thanks so much!
    I was wondering... could we use fastp instead of fastqc ? since i think you can also trim with fastp if needed...is that correct?
    Again, thank you for this content, it is magical 😀

    • @Bioinformagician
      @Bioinformagician  Рік тому +1

      I haven't used fastp before. If it does the same thing as FastQC and allows you to perform trimming as well, then go for it.

    • @RaviKumar-wg9zm
      @RaviKumar-wg9zm Рік тому

      Thank you Bioinformagician ma'am

  • @Harshraj19988
    @Harshraj19988 Рік тому

    Perfect. Good job.

  • @QueenieTsang-h6g
    @QueenieTsang-h6g Рік тому +2

    Thanks for this very informative tutorial! I am trying to run the bwa index reference step, and it looks like it is stuck on the "[bwa_index] construct SA from BWT and Occ ..." step. How long does this step usually take to run?

    • @javiflaja4063
      @javiflaja4063 Рік тому +1

      depends on the computational power you have and the size of the reference genome... For a human reference genome, it usually takes between 30min to 1 hr

  • @isadoramachadoghilardi3168
    @isadoramachadoghilardi3168 10 місяців тому

    Thank you very much for this wonderful explanation!! I have a question: can I identify CNVs in exome sequencing? I love your videos!

  • @ДмитрийХолмс-щ9р

    Thank you dear
    😊

  • @moluscosm
    @moluscosm Рік тому +1

    I have a question, does this work demo needs can be run in a 16gb ram computer??'

  • @andreslavore3928
    @andreslavore3928 6 місяців тому

    Excellent video!! how do you run GATK for poliploid data which variant calling was made using Freebayes? how do you extract several different haplotypes from this kind of data? Thanks

  • @moluscosm
    @moluscosm Рік тому +1

    does anywone else gets failed: Operation timed out. when trying to download the read ... ???

  • @Grzegorz-f1b
    @Grzegorz-f1b 6 місяців тому

    ❤❤❤ Thanks You for This learn 👌💪🙏

  • @kubracelikbas6606
    @kubracelikbas6606 Рік тому

    Thanks so much 🌸

  • @anikeshbanik345
    @anikeshbanik345 2 місяці тому

    How much time does the alignment to reference process takes? I am learning it to research about somatic variants in breast cancer cell line.

  • @johirislam8174
    @johirislam8174 Рік тому

    nice . SO do you have a complete pipeline of WGS data analysis from beginning to end . I mean from sequencing fastq data to variant calling??

  • @Sumit516
    @Sumit516 4 місяці тому

    Can this pipeline be used for variant calling in bacterial genomes? Bacterial genome is haploid as opposed to eukaryotes

  • @UmerBaig117
    @UmerBaig117 2 роки тому

    At 37:27, you did not use the $ sign with the variable data "{data}/recal_data.table". will this variable work without using the $ sign?
    Can you tell the difference between using HaplotypeCaller for One sample Nad Using HaplotypeCaller with -ERC gVCF mode. And when to use which one?

    • @Bioinformagician
      @Bioinformagician  2 роки тому +2

      GATK recommends to run Haplotype caller in GVCF mode when you are running more than one sample. With just one sample, running HaplotypeCaller as normal should be sufficient.

  • @MuhammadUsama-u2s
    @MuhammadUsama-u2s 11 днів тому

    this tutorial is very nice. I just have one question that my vcf file does not contains the dbsnp id. So is it normal or i am doing any mistake?

  • @ryanwelch2831
    @ryanwelch2831 5 місяців тому

    How long did the gatk BaseRecalibrator algorithm take to make the table? Thank you!

  • @Subhash_mahamkali
    @Subhash_mahamkali 5 місяців тому

    does base Qulity recalibration step is very important?
    beacuse, I am using this pipeline on WGS of sorghum data set. Now I have called the variants without this step ( filtering is done). I used the same vcf file for BQSR step and for some odd reason.. in my .g.vcf file there are no SNPs at all.....

  • @hassanchoudhary9594
    @hassanchoudhary9594 7 місяців тому

    how can we set ploidy argument in GATk , can you share tge script fot that. thanks

  • @stemcell1167
    @stemcell1167 Рік тому

    Hi
    BQSR is too slow any idea how to speed it up?
    I am using GATK's latest version

  • @himanisareen205
    @himanisareen205 Рік тому

    do you have any video that informs us about the prerequisites that you mentioned like the linux coding and all?

  • @dorrarjaibi
    @dorrarjaibi Рік тому

    Thank u foe the explanation ❤ i have a question , if i m using GATK to detect snps in virus , the.BQSR from GAtK resources bundle i use the one for human or for the virus , cause i didn't find anything on the GATK web site

  • @AnastasiaPetukhova-o9v
    @AnastasiaPetukhova-o9v Рік тому

    Hi! Could you please make another video on how to call germline CNV and CV or provide me a good tutorial on this topic?

  • @sakshimehta5467
    @sakshimehta5467 8 місяців тому

    hi, could you please tell how do we remove genome duplication in our sample?

  • @desaishailesh3527
    @desaishailesh3527 Рік тому

    Haplotype caller is taking more time, is there problem, i am using GATK 4.0, its going through each chromosome and position, i have 32 GB system though, its more than 3 hours and still have not finished process of till chromosome 2 of one whole genome

  • @kabongontumba9492
    @kabongontumba9492 8 місяців тому

    Amazing amazing

  • @silvereyes000
    @silvereyes000 5 місяців тому

    From where did she get the reference genome? She didn't mention anything about it. Anyone else knows?

  • @nourlarifi1689
    @nourlarifi1689 Рік тому

    thank you again for you videos. Could we apply this workflow on scRNAseq data ?

  • @lauras7670
    @lauras7670 2 роки тому

    Hi, thanks so much for your video. When I run HaplotypeCaller I get the error "Unable to trim uncertain bases without flow order information" and I cannot find anything on the GATK website. My .bam files are validated... I was wondering if you happen to know how to solve this problem. Thanks!

  • @kathy_kath
    @kathy_kath Рік тому

    Hi. Thanks for the tutorial, it helps me a lot! I have a question, how many GB is the resulting .sam file?

  • @rajeshsingh-xv7wy
    @rajeshsingh-xv7wy Рік тому

    Ma'am when are you gonna upload the same stuffs for somatic mutation calling?

  • @vinaydeep26
    @vinaydeep26 Рік тому

    GATK HaplotypeCaller runs very slow. any tips to make it work fast?

  • @ramachandran8106
    @ramachandran8106 2 роки тому +1

    Hi, could you upload GWAS tutorial videos please.......

  • @GüllüElifÖzdemir
    @GüllüElifÖzdemir Рік тому +1

    Hello, I am having a serioud problem. I am performed your video content from start to finish. However, when performing fastqc step, I constantly get an error that the middle line didn't start with + for the SRR062634_2_filt.fast.gz file. Then, instead of performing this step on the command line, I did this step manually in the fastqc tool, the proces was completed but this time it gave an error in the base sequence quality of the SRR062634_1 file. So I couldn't get the same fastqc results as you. I continued to perform the steps, but after alignment, I could not get any result in the samtools view and flagstat steps. Could you please help me solve this problem? I would also like to thank you for preparing such a nice content.

  • @riyakokate9333
    @riyakokate9333 2 роки тому

    How to add executable to the path?
    I am using Windows for running this. Would you please tell me how to use Docker to run this commands?

  • @Hypertyz
    @Hypertyz Рік тому

    Thanks a lot :D

  • @NishantShekhar-k5m
    @NishantShekhar-k5m Рік тому

    Could you please tell... Is 16 gb ram is enough for running gatk?

  • @tarkkrloglu2406
    @tarkkrloglu2406 Рік тому

    Hİ, thank you for tutorials. I have one question. Is there any difference wes and wgs data analysis? Can I use this workflow in wes data analysis?

    • @Bioinformagician
      @Bioinformagician  Рік тому

      There are some tweaks you'd have to do for WES data. Check out this thread: gatk.broadinstitute.org/hc/en-us/community/posts/4411453286811-Is-there-different-pipelines-between-WGS-variant-calling-and-WES-variant-calling-

  • @pratibhagour4336
    @pratibhagour4336 2 роки тому

    Thanks a ton for putting up this video.. Could you please make videos on bi-sulfite sequencing data analysis and also chip-seq data analysis? Thanks in advance :)

    • @Bioinformagician
      @Bioinformagician  2 роки тому +2

      Sure, definitely have plans to make videos covering these topics :)

  • @miannuman8914
    @miannuman8914 2 роки тому +2

    Hello, you are doing a great job, but putting the command in the terminal do it a little bit slow so we can get it easily. hope you understand my point.

  • @beatricefulton4581
    @beatricefulton4581 Рік тому

    This is really helpful thank you! Your videos are amazing. Unfortunately, I am having trouble getting CreateSequenceDictionary to work. saying :Neither file nor parent directory exist

  • @leearmstrong1581
    @leearmstrong1581 2 роки тому

    Could you make a video on using the limma package for gpr files from GEO? It would be so helpful. Or do you do private tuition? Thanks a million!

    • @taniadas3301
      @taniadas3301 2 роки тому

      Even I would like to attend if she conducts tuition

    • @Bioinformagician
      @Bioinformagician  2 роки тому

      I will surely consider making a video using limma package and no, I do not provide private or any type of tutoring. Thanks!

  • @ayushsafar6289
    @ayushsafar6289 2 роки тому

    what about SRR __ 2
    ?

  • @naveedkhan-fi6ux
    @naveedkhan-fi6ux 2 роки тому

    It is great work.... its great to watch..... would you please also make a video for 3000 rice genome project and to explain how we can perform SNP variation/haplotype variation within the 3000 rice lines (not just compare two one line with the reference). I also want to perform haplotype analysis for my target gene using 3000 Rice genome project and want to check the haplotype diversity within 3000 rice lines. Anyone have some idea on it..... i would appreciate if someone can help me out

    • @mananchelvan157
      @mananchelvan157 Рік тому

      Hi, any updates on doing SNP analysis on 3000 lines?

    • @naveedkhan-fi6ux
      @naveedkhan-fi6ux Рік тому +1

      @@mananchelvan157 no dear, still no update. Maybe this is not her area of interest. I also really need this analysis

  • @RuqaiyaTasneem-z5w
    @RuqaiyaTasneem-z5w 6 місяців тому

    your bases at the end are of low quality so why not trim it ?

  • @ayushsafar6289
    @ayushsafar6289 2 роки тому

    could you help about
    ancestry

  • @MsZhang666
    @MsZhang666 2 роки тому

    really really really helpful !!!!! I succeed !!! hhhhh😘

  • @nishapaudel5572
    @nishapaudel5572 2 місяці тому

    Getting started with GATK4 Follow. GATK - properly pronounced "Gee-ay-tee-kay" (/dʒi•eɪ•ti•keɪ/) and not "Gat-kay" (/ɡæt•keɪ/) - stands for Genome Analysis Toolkit.

  • @wajidiqbalwajidiqbal13
    @wajidiqbalwajidiqbal13 2 роки тому +4

    It would be great if you could please make another part to make the publication ready graphs and stuff like annotations from the raw vcf file