User: nkausthu

gravatar for nkausthu
nkausthu20
Reputation:
20
Status:
New User
Location:
Last seen:
6 months, 2 weeks ago
Joined:
3 years, 6 months ago
Email:
n*******@gmail.com

Posts by nkausthu

<prev • 47 results • page 3 of 5 • next >
0
votes
3
answers
704
views
3
answers
Answer: A: literature mining for genes and mutations
... I will explore all these options. Thank you so much.. ...
written 2.1 years ago by nkausthu20
0
votes
3
answers
704
views
3
answers
Comment: C: literature mining for genes and mutations
... I want to extract all the SNVs and Indels which are known to cause different group of skeletal disorders. I have the list of genes for this conditions approx 200 genes. I am good in perl and python but I don't know writing a script will help me to get the accurate results. ...
written 2.1 years ago by nkausthu20
3
votes
3
answers
704
views
6 follow
3
answers
literature mining for genes and mutations
... I have a list of genes and I need to extract all the reported mutations in those genes. It would be really great if someone can suggest me the best way to do this using open source tools with high accuracy. ...
genes pubmed mutations mining written 2.1 years ago by nkausthu20
0
votes
2
answers
638
views
2
answers
Answer: A: High score deletion called by XHMM shows full coverage through IGV
... https://ibb.co/gNFWX6 ...
written 2.3 years ago by nkausthu20
0
votes
2
answers
638
views
2
answers
Comment: C: High score deletion called by XHMM shows full coverage through IGV
... As you said it may be because I am using the bam which is not normalized for library size. Still we could get some hint from bam (am I right?). Xhmm result is as follow 2180 DEL X:13762483-13786394 23.91 X 13774438 201446..201462 17 32 99 99 33 1 ...
written 2.3 years ago by nkausthu20
0
votes
2
answers
638
views
2
answers
High score deletion called by XHMM shows full coverage through IGV
... Hi, I have used XHMM to identify CNVs from our exomes. But for many cases the high score deletions/duplication called by XHMM are not getting correlated with visualization of bam through IGV. If a region is called as deletion in only one individual by XHMM and when we visualize the region through IG ...
xhmm cnv igv written 2.3 years ago by nkausthu20
0
votes
0
answers
1.6k
views
0
answers
Comment: C: Annotation of XHMM VCF file (CNV analysis)
... [XHMM][1] [1]: https://groups.google.com/a/broadinstitute.org/forum/#!searchin/xhmm-users/vcf/xhmm-users/fg7tVbQXit0/x7oHF2rNHAoJ ...
written 2.4 years ago by nkausthu20
0
votes
0
answers
1.6k
views
0
answers
Comment: C: Annotation of XHMM VCF file (CNV analysis)
... From xhmm Google group, I could understand that ac corresponds to number of individuals. ...
written 2.4 years ago by nkausthu20
0
votes
0
answers
1.6k
views
0
answers
Comment: C: Annotation of XHMM VCF file (CNV analysis)
... Oks.. If this is the case I can't filter cnvs based on allele count. I generally consider AC=1,0 or 0,1 thinking that only one patient has the corresponding CNV. Then it's very difficult to analyse and narrow down to a pathogenic cnv ...
written 2.4 years ago by nkausthu20
0
votes
0
answers
1.6k
views
0
answers
Comment: C: Annotation of XHMM VCF file (CNV analysis)
... Great!! Thank you so much for reminding about bedtools. I think this will work. Let me try. One more thing I want to know its regarding the allele count which is in Xhmm vcf file. Some times for a particular cnv vcf shows AC=3 and when I go back and check in .xcnv file only one individual has th ...
written 2.4 years ago by nkausthu20

Latest awards to nkausthu

Popular Question 10 months ago, created a question with more than 1,000 views. For Tools for visualization of CNVs called by XHMM
Popular Question 14 months ago, created a question with more than 1,000 views. For Annotation of XHMM VCF file (CNV analysis)
Popular Question 14 months ago, created a question with more than 1,000 views. For Allele frequency calculation
Popular Question 17 months ago, created a question with more than 1,000 views. For Allele frequency calculation
Popular Question 17 months ago, created a question with more than 1,000 views. For Number of homozygous and heterozygous variants

Help
Access

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.
Powered by Biostar version 2.3.0
Traffic: 1165 users visited in the last hour