Results for "Variations"
Blogs
Tools to detect synteny blocks regions among multiple genomes
...plete genome annotations. Sibelia (http://arxiv.org/abs/1307.7941). A comparative genomic tool: It assists biologists in analysing the genomic variations that correlate with pathogens...2602 days ago
- ...implications of next generation sequencing based tests in multi-gene testing. We will also show how NGS based tests help to identify copy number variations, split read analysis and brea...
2795 days ago
- +4 more Blogs
Bookmarks
Next Generation Sequencing (NGS) Tutorials
...org/content/19/R2/R227.full.pdf ============================================== NGS data analysis pipelines Detecting and annotating genetic variations using the HugeSeq pipeline&nb...3479 days ago
- ...ations) is a suite of tools for discovering and genotyping structural variations using sequencing data. The me...e methods are adaptive and support heterogeneous data sets, including variations in sequencing depth, read len...
2790 days ago
- +16 more Bookmarks
Files
Evaluation of genome assembly software based on long reads
...new insights into evolution and sequence diversity. They have also been applied to resequencing analyses, to create detailed maps of structural variations in many species. Also, these...1912 days ago
Top-level pages
Useful Publications and Websites for Deep Sequencing Data Analysis
...a web service that allows searching deep sequencing datasets with a reference sequence of a gene of interest] Detecting and annotating genetic variations using the HugeSeq pipeline. L...3771 days ago
Apps for Busy Bioinformatics Researchers !!!
...ng data that have been published for research and learning purposes. Visualize whole human genome sequencing data including small variations, copy number variations (CNVs), and loss of heterozyg...3533 days ago
- +2 more Top-level pages
News
You and your friend have similar DNA !!!
...rth cousin. Scientists with a long-running Framingham Heart Study looked at 1,932 people (examination of about 1.5 million markers of genetic variations), comparing unrelated friends...3561 days ago
- ...as well as differential diagnosis, even for complex clinical conditions. With robust bioinformatic analysis, we were able to detect few complex variations in few cases which a conventi...
2231 days ago
Opportunity posts
Visiting Scientist - Computational Genomics (two positions)
...A and RNA data Data mining and development of pipelines and troubleshooting Genome diversity analysis such as SNPs, Indels, Structural Variations, population structure Ge...3581 days ago
Video
- ...gments, of an individual's DNA. The method was used in subsequent years to identify several human disease genes, such as Huntington's and BRCA1. Variations of this method enabled the se...
3865 days ago
Bio-Scripts
- ...ssemblies and calls structural variants ExtractSVEvidenceSpark (BETA Tool) (Internal) Extracts evidence of structural variations from reads FindBreakpoin...
2067 days ago
Tags
- 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
Tags: Bioinformatics, Analysis, NGS, Structure, Variations, Genome
2789 days ago
Comments
Comment on "Sibelia: A comparative genomics tool"
...correction --------------------- Algorithm of "Sibelia" depends on presence of solid k-mers within syntenic regions. If such regions contain variations close to their borders, they...1277 days ago
Comment on "Computer simulation of genetic mechanism !!"
Thanks for such a useful list of tool for simulation studies. I guess you forgot to add RSVSim: an R/Bioconductor package for the simulation of structural variations ( https://www.bioconductor.org/packages/release/bioc/html/RSVSim.html ) in the list.2966 days ago
