Mitochondrial Gold Rush

Mitochondrial genomes can be extracted from Whole Exome Sequencing (WES) data as outlined by this paper in Nature methods by Ernesto Picardi & Graziano Pesole. Tools like Mito Seek are now available that gather mitochondrial read sequences from NGS data and perform high throughput sequence analysis. Availability of mitochondrial genomes is important as genomic variation in mitochondria has [...]

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Venn Diagrams Simplified

Not a week goes by without me having to compare multiple lists to evaluate overlap. Re-analyzing any data and comparing that with previously computed data, comparing results from multiple tools or multiple samples. Sometimes the unix commands diff, paste and join come handy, but most times am looking for some additional information. Almost always, am [...]

R Line Plots – the easiest fastest plot ever

What you need: Data R Eager Bioinformatician For data I used a file with 7 columns where the first column was a counter and the other columns (2-7) had different values that I would like to compare across using a line plot to visualize the variation in my data points Serves: As many data points [...]

Clinical Findings from Sequencing keep flowing…

Just a glance at GenomeWeb's "In Print: Clinical Sequencing Papers of Note of the Last Two Weeks" is enough to show how hard it is to keep up with the sequencing revolution. Of the 37 publications mentioned here, 15 talk about whole-exome sequencing (WES) (and two amplicon sequencing and three whole-genome seq) identifying the causal [...]

HuGGV Poster – Analyzing Variants in 1000 Human Genome Data

Been sometime since I worked on this poster (almost a semester) but its in here before I get myself to work on these variation results and find some answers. Though its interesting to see the trends of different variation across different chromosomes. I found chromosome 19 to stand out in most comparisons. Need to dig [...]