lh3: I will try BAQ right away to see if it improves things. Thanks for the advices
Unconfigured Ad
Collapse
X
-
Yeah, what I'm trying now and which seems to give very nice numbers of variants and ts/tv ratio is align->GATK realign/recalibrate(cleans up alignments)->BAQ->GATK Unified Genotyper(Dindel for indels). GATK's built-in filters are very nicely calibrated, at least in human.
Actually, Dindel is reporting more indels than I expect (a little under twice as many), but it could be that it's significantly more sensitive than samtools. But that's another thread.Mendelian Disorder: A blogshare of random useful information for general public consumption. [Blog]
Breakway: A Program to Identify Structural Variations in Genomic Data [Website] [Forum Post]
Projects: U87MG whole genome sequence [Website] [Paper]
Comment
-
-
If you're looking for aligners that find indels you could try the Omixon Variant Toolkit. It's a gapped aligner with spaced seeds similar to ShRIMP and BFast but it uses a different set of algorithms for the alignment. There's a cloud based web implementation (http://www.omixon.com/omixon/abouttoolkit.htm) where you can try it for free, and it's also available for free evaluation as a command line tool, you just need to send an email to [email protected].Originally posted by mathieu View PostHi epigen & John,
Thanks for your advices. I tried to install bioscope on our cluster but I gave up... Concerning BWA, it is the first one I tried and I was quite disappointed by the results since it has been highly recommended with low mapping rate (22.6%). The first results I have using BFAST and ShRIMP are almost the same in term mapping rate (57.5% and 51.2% respectively). However ShRIMP was a bit faster.
@epigen: For the SNP et InDels calling I am using samtools so far, but I am not very satisfied there are too many miscalls. What are your advices?
Comment
-
-
Hi Tim,Originally posted by Tim Hague View PostIf you're looking for aligners that find indels you could try the Omixon Variant Toolkit. It's a gapped aligner with spaced seeds similar to ShRIMP and BFast but it uses a different set of algorithms for the alignment. There's a cloud based web implementation (http://www.omixon.com/omixon/abouttoolkit.htm) where you can try it for free, and it's also available for free evaluation as a command line tool, you just need to send an email to [email protected].
This post is bordering on being too commercial for this forum...I'm going to let it stay here as it's relevant to the discussion but please just be aware in the future that overly commercial posts belong in the Vendor Forum. This was reported by a couple of people as too commercial.
Thanks!
-+Eric
Comment
-
-
Hi Eric,Originally posted by ECO View PostHi Tim,
This post is bordering on being too commercial for this forum...I'm going to let it stay here as it's relevant to the discussion but please just be aware in the future that overly commercial posts belong in the Vendor Forum. This was reported by a couple of people as too commercial.
Thanks!
-+Eric
Thanks for the friendly warning, I'm fairly new here and just learning the rules of the road! I wasn't trying to sell anything, just trying to help the OP with his issue.
Cheers,
Tim.
Comment
-
Latest Articles
Collapse
-
by SEQadmin2
Proteomics platforms are evolving rapidly, with advances in mass spectrometry and affinity-based approaches expanding what researchers can detect and at what scale. As the field moves toward deeper proteome coverage and clinical applications, scientists face an increasingly complex landscape of tools. This article will explore how researchers are navigating these choices to find the right platform for their work.
The systematic characterization of the human proteome has...-
Channel: Articles
07-20-2026, 11:48 AM -
-
by SEQadmin2
Genomics studies in neuroscience face a special challenge due to the brain’s complexity and scarcity of samples. Mapping changes in cell type and state using conventional next-generation sequencing methods remains challenging. Advances in technologies like single-cell sequencing, spatial transcriptomics, and long-read sequencing have opened the door to deeper studies of the brain and diseases like Alzheimer’s, amyotrophic lateral sclerosis (ALS), and schizophrenia.
...-
Channel: Articles
07-09-2026, 11:10 AM -
-
by SEQadmin2
Cancer survival rates have significantly increased in the last few decades in the United States, reaching a combined 70% 5-year survival rate by 2021. Behind this number, there are years of research to find new therapies, drug targets, and early detection methods. But there is one core challenge that keeps slowing down these advances, and it’s about drug resistance.
There is no single reason why many patients don’t respond to treatment as expected. Cancer is...-
Channel: Articles
07-08-2026, 05:17 AM -
ad_right_rmr
Collapse
News
Collapse
| Topics | Statistics | Last Post | ||
|---|---|---|---|---|
|
Started by SEQadmin2, Yesterday, 12:17 PM
|
0 responses
13 views
0 reactions
|
Last Post
by SEQadmin2
Yesterday, 12:17 PM
|
||
|
Started by SEQadmin2, 07-23-2026, 11:41 AM
|
0 responses
12 views
0 reactions
|
Last Post
by SEQadmin2
07-23-2026, 11:41 AM
|
||
|
Started by SEQadmin2, 07-20-2026, 11:10 AM
|
0 responses
23 views
0 reactions
|
Last Post
by SEQadmin2
07-20-2026, 11:10 AM
|
||
|
Started by SEQadmin2, 07-13-2026, 10:26 AM
|
0 responses
37 views
0 reactions
|
Last Post
by SEQadmin2
07-13-2026, 10:26 AM
|
Comment