Results for "Variants"
Blogs
How many variants of "omics" techniques presently in use ?3936 days ago
Computer simulation of genetic mechanism !!
...mulator of Rare Varaints (srv) is a simulator for the simulation of the introduction and evolution of (rare) genetic variants. http://simupop.sourceforge.net/cookbook/simurarevariants SUP SLINK/FastSL...2967 days ago
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Bookmarks
RNA Sequencing Helps Identify Functional Variants from GWAS
For Alzheimer’s and other complex disorders, mining the genome for disease-associated variants is no longer the obstacle. The challenge nowadays is figuring out how the identifie...3808 days ago
- ...tutorial In this tutorial we cover the concepts of detecting small variants (SNVs and indels) in human ge...s its input a BAM file of aligned reads and generates a list of likely variants in VCF format Pipelines are...
3644 days ago
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Files
- 1000 Genomes data tutorial at ASHG Structural variants presentation by Jan Korbel European Molecular Biology Laboratory (EMBL) Heidelberg Genome Biology Research Unit Reference: https://www.genome.gov/pages/research/der/1000genomesprojecttutorials/structuralvariants-jankorbel.pdf
2789 days ago
Pages
Genome Assembly Tools and Software - PART2 !!
...0 – Detection and Assembly of Insertion VariantsMindTheGap is a software...forms detection and assembly of DNA insertion variants in NGS read datasets with res...oftware uses a simple error correction, viral variants assembling based on maximum-b...2677 days ago
Top-level pages
List of bioinformatics open source projects/software.
...-seq. GeneTalk http://www.gene-talk.de/ Tool for filtering sequence variants in VCF files. Network for sci...ertise and knowledge exchange. Database of annotations aboute sequence variants with clinically relevant info...3748 days ago
List of generic simulation software/tools/resource with brief description and homepage !!!
...mulator of Rare Varaints (srv) is a simulator for the simulation of the introduction and evolution of (rare) genetic variants. http://simupop.sourceforge.net/cookbook/simurarevariantsSUP SLINK/FastSLINK utility pr...3729 days ago
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Wire posts
News
- ...richment for indels in children affected by autism, compared with their unaffected siblings, a pattern that persisted even after excluding common variants.
3538 days ago
- ...ome method was missing more than 40 percent of disease-causing genetic variants, and we found that the worst-performing method missed more than 90 percent of such variants in four of the 56 genes," he...
3617 days ago
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Opportunity posts
Structural polymorphism analysis from NGS data
...rotein expression and phenotypic adaptation. The successful candidate will be in charge of the detection of polymorphisms including structural variants, of the comparison of multipl...3940 days ago
- ...e outcomes of experimental evolution will be correlated with phenotypes. The first challenge in the project will be to identify which of the many variants in these genomes have functio...
3940 days ago
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ResearchLabs posts
- Scientific Interests: Models and software for predicting who is at risk of carrying genetic variants that confer susceptibility to cancer. Application to breast, ovarian, colorectal...
3871 days ago
- ...nvicta (PNAS 2011) 2. discovered that a fundamental social trait in this species (how many queens are accepted in the colony) is determined by variants of a social chromosome (Natur...
3550 days ago
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Video
- ...alterations of the regulation of specific growth-promoting genes, population-genetic features that affect the fitness trajectories of growth rate variants in evolving populations, and...
3864 days ago
Dr. Ken Buetow: IS & Personalized Medicine Lecture-Part 1
...n which it has developed. These technologies identify the millions of variants present in normal individuals...oped approaches to efficiently and accurately computationally identify variants. More recently, the analyti...3862 days ago
Bio-Scripts
- ...t analyze read coverage to detect copy number variants. AnnotateIntervals...(BETA Tool) Calls copy-number variants in germline samples given the...form variant calling and genotyping for short variants (SNPs, SNVs and Indels)...
2067 days ago
Samtools commands for bioinformatician !
...files samtools index sal_sej_sorted.bam.bam ### identifying genome variants (mpileup command) # -g : out...calling snp and indels # -c : find snp # -v : output only potential variants bcftools view -c -v sal_vars...1594 days ago
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Groups
...ou even realising. By taking a glass from which you have drunk, a "genome hacker" could obtain a comprehensive scan of your genome, revealing DNA variants that help determine your susc...3944 days ago
Tags
- DISCOVAR is a new variant caller and DISCOVAR de novo a new genome assembler, both designed for state-of-the-art data. Their inputs are chosen to optimize quality while keeping costs low. Currently it takes as input Illumina reads of length 250 or longer — produced on MiSeq or HiSeq 2500 &m...
Tags: Bioinformatics, NGS, Assembly, DISCOVAR, Variants, BroadInstitute
2930 days ago
- Call sviper ~$ ./sviper -s short-reads.bam -l long-reads.bam -r ref.fa -c variants.vcf -o polished_variants This will output a polished_variants.vcf file, that contains all the refined variants. Sometimes it is helpful to look at the polished sequence, e.g. with the IGV browser. In...
Tags: SViper, Swipe, Structural, Variants, ONT, PacBio, reads, Illumina
1588 days ago
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Comments
Comment on "Coronavirus Resources !"
...Variant Classification scheme that defines three classes of SARS-CoV-2 variants: Variant of Interest Vari...rsting piece of information https://www.cdc.gov/coronavirus/2019-ncov/variants/variant-info.html952 days ago
Comment on "Calling variants in non-diploid systems"
FreeBayes is widely used for calling variants in diploid systems. However, it can also be used for calling variants in pooled samples where the n...1035 days ago
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