Results for "Exome"
Blogs
Computer simulation of genetic mechanism !!
...r post-GWAS genetic epidemiological studies using whole-genome or whole-exome next-gen sequencing data, wit...sis (PVA). http://www.vortex9.org/vortex.html Wessim Whole Exome Sequencing SIMulator http://s...2960 days ago
Tools and Method for Haplotype phasing !
...ances, both from increasingly comprehensive and inexpensive genome-wide SNP microarrays and from ever more accessible whole-genome and whole-exome sequencing methods. The vast...1323 days ago
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Bookmarks
Next Generation Sequencing (NGS) Tutorials
...OI: 10.1186/1471-2105-12-134 Abstract: http://www.biomedcentral.com/1471-2105/12/134/abstract WEP: a high-performance analysis pipeline for whole-exome data http://www.biomedce...3472 days ago
- ...and often allow more control over branching and iteration logic. WGS/exome GATK-based variant calling pi...imilar) data. The master branch is configured for WGS data; there is an exome branch configured for variant...
3638 days ago
- +8 more Bookmarks
Top-level pages
List of Bioinformatics Software Tools for Next Generation Sequencing
...e assembly, targeted resequencing, exome alignment, gene panels with v...tained from other aligners Aligns exome data and performs variant cal...t 2014 Oct version, NIH-NHLBI 6500 exome database version 2 (referred...ally annotates variants from whole-exome sequencing data; Based on Jan...2894 days ago
Wire posts
News
- ...aller and SOAPindel in test runs on both simulated and real whole human exomes. Like other indel callers,...ekend in Nature Methods, compares Scalpel's performance on a live whole exome against HaplotypeCaller and S...
3531 days ago
- ...Professor, Thomas Jefferson University, USA, stated that analysis of 44 exome datasets from four different...cally relevant regions in the 56 ACMG genes. "At least one gene in each exome method was missing more than...
3610 days ago
- +3 more News
Opportunity posts
Clinical Genomics & Informatics Europe at Lisbon, Portugal
...mbridge Healthtech Institute's fifth international Clinical Genomics & Informatics Europe conference will feature four main tracks on Clinical Exome Sequencing, High Scale Comput...3902 days ago
Assistant Professor @ King Saud University Riyadh
...ork collaboratively. This position will have a significant focus on providing analytical support for next generation sequencing data analysis – Exome-sequencing, Targetted sequenc...3711 days ago
- +8 more Opportunity posts
ResearchLabs posts
- ...ational methods and resources for the functional annotation of genomes with a special emphasis on sequencing-based assays (e.g. ChIP-seq, RNA-Seq, exome- and whole-genome sequencing,...
1923 days ago
Tags
- Dr Eric Londin, Assistant Professor, Thomas Jefferson University, USA, stated that analysis of 44 exome datasets from four different testing kits showed that they missed a high proportion of clinically relevant regions in the 56 ACMG genes. "At least one gene in each exome method was missing more...
Tags: Exome, WGS, Sequencing, Clinical, omics, diagnostics
3610 days ago
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Comments
Comment on "List of popular bioinformatics software/tools"
There are different ways to perform exome sequence analysis, but GATK have a good guide for 'Best Practice': http://www.broadinstitute.org/gatk/guide/best-practices3573 days ago
