http://ga4gh.org/#/ - GA4GH Data Working Group
Led by David Haussler (UCSC) and Richard Durbin (Sanger Institute), the Data Working Group (DWG) of the Global Alliance brings together the leading Genome Institutes and Centers with IT industry leaders to create global...
www.well.ox.ac.uk - Platypus is a tool designed for efficient and accurate variant-detection in high-throughput sequencing data. By using local realignment of reads and local assembly it achieves both high sensitivity and high specificity. Platypus can detect...
The genome of 130 mammals was sequenced by a large international consortium and the data was analyzed together with 110 existing genomes to allow scientists to identify the important positions in the DNA.
In today’s era of big biology, we’re generating more data than ever before—genomes, transcriptomes, proteomes, metabolomes, microbiomes… you name it. But raw biological data doesn’t speak for itself. Making sense of it requires more than traditional...
github.com - ClipCrop for detecting SVs with single-base resolution using soft-clipping information. A soft-clipped sequence is an unmatched fragment in a partially mapped read. To assess the performance of ClipCrop with other SV-detecting tools, we generated...
www.today.com - “What we really don’t know yet is whether the predictive aspects of the genome are going to turn out to be beneficial or potentially harmful”
“As we roll out genomic medicine we are fighting against this society-wide...
biochem218.stanford.edu - Excellent article to introduce different sequencing methods along with tools for de novo assembly of sequencing reads and their relevant references.
Title: Comparison of Short Read De Novo Alignment Algorithms
Author: Nikhil Gopal
www.biomedcentral.com - A. Hatem, D. Bozdag, A. E. Toland, U. V. Catalyurek "Benchmarking short sequence mapping tools" BMC Bioinformatics, 14(1):184, 2013.
http://bmi.osu.edu/hpc/software/benchmark/
http://bmi.osu.edu/hpc/software/pmap/pmap.html
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