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Summary from Bioinformatics Open Science Codefest 2013: Tools, infrastructure, standards and visualization 19 Jul 2013 | 03:26 am

The 2013 Bioinformatics Open Source Conference (BOSC) starts tomorrow in Berlin, Germany. It’s a yearly conference devoted to community-based software development projects supporting biological resear...

Scaling variant detection pipelines for whole genome sequencing analysis 22 May 2013 | 03:50 pm

Scaling for whole genome sequencing Moving from exome to whole genome sequencing introduces a myriad of scaling and informatics challenges. In addition to the biological component of correctly identi...

Scaling variant detection pipelines for whole genome sequencing analysis 22 May 2013 | 03:50 pm

Scaling for whole genome sequencing Moving from exome to whole genome sequencing introduces a myriad of scaling and informatics challenges. In addition to the biological component of correctly identif...

Framework for evaluating variant detection methods: comparison of aligners and callers 6 May 2013 | 05:29 pm

Variant detection and grading overview Developing pipelines for detecting variants from high throughput sequencing data is challenging due to rapidly changing algorithms and relatively low concordance...

Framework for evaluating variant detection methods: comparison of aligners and callers 6 May 2013 | 05:29 pm

Variant detection and grading overview Developing pipelines for detecting variants from high throughput sequencing data is challenging due to rapidly changing algorithms and relatively low concordance...

Bioinformatics open source interoperability Hackathon at the Broad Institute 9 Apr 2013 | 12:25 am

Interoperability Hackathon On April 7th and 8th, a group of biologists and programmers gathered at the Broad Institute to work on improving interoperability of open-source bioinformatics tools. Organi...

Bioinformatics open source interoperability Hackathon at the Broad Institute 9 Apr 2013 | 12:25 am

Interoperability Hackathon On April 7th and 8th, a group of biologists and programmers gathered at the Broad Institute to work on improving interoperability of open-source bioinformatics tools. Organi...

The influence of reduced resolution quality scores on alignment and variant calling 13 Feb 2013 | 03:49 pm

BAM file size reduction and quality score binning We have a large upcoming whole genome sequencing project with Illumina, and they approached us about delivering BAM files with reduced resolution base...

The influence of reduced resolution quality scores on alignment and variant calling 13 Feb 2013 | 03:49 pm

BAM file size reduction and quality score binning We have a large upcoming whole genome sequencing project with Illumina, and they approached us about delivering BAM files with reduced resolution base...

An automated ensemble method for combining and evaluating genomic variants from multiple callers 6 Feb 2013 | 05:25 pm

Overview A key goal of the Archon Genomics X Prize infrastructure is development of a set of highly accurate reference genome variants. I’ve described our work preparing these reference genomes, and s...

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