Understanding File Formats in Bioinformatics: VCF and gVCF

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  • เผยแพร่เมื่อ 30 พ.ย. 2024

ความคิดเห็น • 46

  • @magdalineakinyi5928
    @magdalineakinyi5928 11 หลายเดือนก่อน +2

    I am a bioinformatics student,just began my studies and I have really learnt a lot from your content 😊

  • @abubakarraja7605
    @abubakarraja7605 4 หลายเดือนก่อน

    I am beginner in bioinformatics field I have not learnt these things from my institute as compared to what amazing things I have learnt from your channel thank you so much !

  • @mosesbaraza3369
    @mosesbaraza3369 7 หลายเดือนก่อน +1

    Quite explicit explanation and detailed and very chronologically arranged. Looking forward to learn in subsequent lessons

  • @hubijohn7451
    @hubijohn7451 10 หลายเดือนก่อน

    Am I glad I found this channel. Great stuff!

  • @isadoramachadoghilardi3168
    @isadoramachadoghilardi3168 2 ปีที่แล้ว +1

    Excellent video! I'm in love with your channel!! Congratulations!! I'm starting in this world of bioinformatics, and your videos have helped me a lot! Thank you!

  • @seetarajpara7626
    @seetarajpara7626 2 ปีที่แล้ว +4

    I love your channel!! Your content is so well organized, thank you so much!

  • @josephinecudjoe3207
    @josephinecudjoe3207 6 หลายเดือนก่อน

    I have been blessed by your videos. Thank you.

  • @Tekofilic
    @Tekofilic 2 ปีที่แล้ว

    Had always been looking for such a video. Thank you so much :D

  • @yuxiang4218
    @yuxiang4218 ปีที่แล้ว

    Very helpful! Thanks for sharing.

  • @giovannapg7532
    @giovannapg7532 2 ปีที่แล้ว +1

    OMG such a good video!!! You can explain everything so amazingly ❤ Could you please one day make a tutorial about data set integration on Seurat, as 10X genomic and Smart-seq2 integration??? Thank you!!

    • @Bioinformagician
      @Bioinformagician  2 ปีที่แล้ว

      Definitely have plans to make a video covering this. Thanks for the suggestion!

  • @DonnchaDunican
    @DonnchaDunican ปีที่แล้ว

    Thanks - great teaching.

  • @humarafique3093
    @humarafique3093 9 หลายเดือนก่อน +3

    Really really amazinggggggg and informative video for the beginners. At 16:40 the position 491520 where the GT is 1/2, there shouldn't be C/CAC instead of CAC/C?

    • @alexeyslinkin4589
      @alexeyslinkin4589 25 วันที่ผ่านมา +1

      I see where your question is coming from, but in this case, the order does not really matter. The forward slash notation (1/2), as opposed to the pipe notation (1|2), indicates that the genotype is unphased. This means we don't know which alleles (C and CAC) are on which chromosome, or in other words, which allele comes from the father, and which comes from the mother. Technically, yes, based on the table, genotype 1/2 corresponds to C/CAC, and if it were 2/1, then CAC/C, but again in this case there's no difference.

  • @alexandrakassis3525
    @alexandrakassis3525 ปีที่แล้ว

    Thank you so much for sharing this information and your knowledge! Very much appreciated. Could you please make a video on doing a joint variant calling? And also, what you would do for joint calling on rna-seq data?

  • @MalahatDianat
    @MalahatDianat ปีที่แล้ว

    Thanks a lot. It was very useful.

  • @faezedarbaniyan1787
    @faezedarbaniyan1787 5 หลายเดือนก่อน

    Thank you so much for elaborating this. I can't relate the definition of Allele Frequency that you mentioned here for rows 2 and 3 in your sample (at 23:44 minutes). Can you please explain it for those?

  • @notterboutuyer2781
    @notterboutuyer2781 2 หลายเดือนก่อน

    what was the name of the forum mentioned?

  • @설동헌-i8d
    @설동헌-i8d 2 ปีที่แล้ว +1

    Such a great lecture! I am just wondering if there is a typo at 17:00, the second row of the table at 332470 position. It has to be C/T not C/A or is there anything I missed?

    • @Bioinformagician
      @Bioinformagician  2 ปีที่แล้ว

      Yes, that is a typo. It should have been A instead of T.

  • @tapanbaral8939
    @tapanbaral8939 ปีที่แล้ว

    Really informative tutorial. Could you please make a video on TMB and MSI ?

  • @abebemisganaw7377
    @abebemisganaw7377 6 หลายเดือนก่อน

    exciting video. Could you upload another video about how to analyze data using VCF tools in a Linux environment

  • @minxie2210
    @minxie2210 ปีที่แล้ว +1

    Thank you for the great video. One quick question regarding the "What does genotype 2/0 or 1/2 mean?" section. In the 4 examples you are given, should the second one be C/T instead of C/A from the genotype numbers? Thanks again, really appreciate your effort in making all the great videos!!

  • @AshishKumar-el8sb
    @AshishKumar-el8sb ปีที่แล้ว

    If i have inserted the part of the same genome in a genome how can i find it

  • @biomagician
    @biomagician 8 หลายเดือนก่อน

    Absolutely fantastic video! Thank you! Does a gVCF always respect the VCF format or is there a distinct gVCF format? Can you tell us more about the multi-sample VCF formats jVCF and MSVCF? Thanks!

  • @anmolpardeshi3138
    @anmolpardeshi3138 ปีที่แล้ว +1

    16:59 - 332470 - shouldn't that be CT or TC - since, for that position, T is reference allele (0) and C is 1st alternate allele (1) - how did you get C/A?

    • @Bioinformagician
      @Bioinformagician  ปีที่แล้ว +2

      It’s a typo. It should be T

    • @anmolpardeshi3138
      @anmolpardeshi3138 ปีที่แล้ว +1

      @@Bioinformagician thanks for the clarification and wonderful videos. I'm trying to make such an effort too. One suggestion would be to pin such clarifications so that they are not lost in a myriad of comments.

  • @alexandrakassis3525
    @alexandrakassis3525 ปีที่แล้ว

    Where can I find your power points you use in your videos?

  • @kajalpanchal8239
    @kajalpanchal8239 2 ปีที่แล้ว +1

    everything is soo good but am i the only one who is facing sound issue? can you please consider that your sound level is really low. otherwise you are a saviour

    • @Bioinformagician
      @Bioinformagician  2 ปีที่แล้ว

      Thank you for pointing it out. I will try to maintain optimal sound levels for my future videos :)

  • @AshishKumar-el8sb
    @AshishKumar-el8sb ปีที่แล้ว

    How to extract total genes from the genome files.

  • @stemcell1167
    @stemcell1167 2 ปีที่แล้ว

    Is there a way to get Allele frequency for each sample in multisample VCF file OR is there a way to get AO and RO .

    • @sauravroy3420
      @sauravroy3420 ปีที่แล้ว

      you can slit the sample using bcftools and then use it accordingly

  • @jattpigeonscorner9368
    @jattpigeonscorner9368 2 ปีที่แล้ว

    Thank you!

  • @nabildhifallah361
    @nabildhifallah361 ปีที่แล้ว

    YES IFOUND THI VIDEO HELPFULL because i can use the whole information about the chromosome and the position the single nucleotide poistion on that chromosome (ALT) compared with the reference of DNA sequence with that i can see well if i have an insertion or convertion or deletion in the dna sample .i am thanking you for your best explanation for the metadataline ,the header and the format .thank you

  • @njagimwaniki4321
    @njagimwaniki4321 6 หลายเดือนก่อน

    How can a VCF record exist where the genotype is 0|0 ? Doesn’t that mean that both the chromosomes match the reference?

  • @mostafaismail4253
    @mostafaismail4253 2 ปีที่แล้ว

    Can You make a tutorial on BS-seq and copy number variations (CNV)?
    It will be great if you did it 💛
    Thanks too much .

    • @mostafaismail4253
      @mostafaismail4253 2 ปีที่แล้ว

      Really you are life saver for my tasks.

    • @Bioinformagician
      @Bioinformagician  2 ปีที่แล้ว

      Thanks for the suggestion, I will surely consider covering these topics in future videos :)

  • @sonalvishwakarma30
    @sonalvishwakarma30 ปีที่แล้ว

    I want to make a request. Could you please make videos on RepeatMasker it would be really helpful

  • @AshishKumar-el8sb
    @AshishKumar-el8sb ปีที่แล้ว

    chrM what it denotes

  • @vinaydeep26
    @vinaydeep26 ปีที่แล้ว

    is the position of the variant with respect to the chromosome? or the whole reference? if there is chr 20 position: 1000 does it mean the variant is from the start of the reference or the chromosome?

  • @MuhammadFaizan-mi9yo
    @MuhammadFaizan-mi9yo ปีที่แล้ว

    I have a very seruious query that got stuck at a point due to which all my projects are halted and I know you can answer my query. if you are willing to help plz reply I will post my query madam. I would be obliged to you plz take this as a request

  • @jeetnanshi4357
    @jeetnanshi4357 10 หลายเดือนก่อน

    Im sorry but the tone is very monotonus. use a marker or please take a break :(