Bioinformatics tools for VCF files

With the ever growing abundance of Next Generation Sequencing (NGS) data there continues to be a challenge faced by the research community to not only standardize best practices and analysis methods, but to embrace the foray of open-source tools and file formats. Having been engaged since almost the beginning of this NGS data outburst with [...]


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 [...]

HuGGV – Human Genome Genetic Variation

In 2010 the 1000 Genome Project published their analyses and findings from the pilot data to determine their strategy of using the light sequencing approach was adequate to present variation results. For the HuGGV project I have studied the genetic variants from the 1000 genomes 2011 release dataset. I downloaded the variant call format (.vcf) [...]

1000 Human Genome Project

The 1000 Genomes Project envisions to sequence genomes of a number of people from different populations and make this dataset publicly available to the scientific community as a comprehensive resource on human genetic variation. The project provides a thorough characterization of human genome sequence variation from the whole genomes sequences they have collected. This characterization [...]

Playing around with the 1000 Human Genome Data

I have had my eye out on the amazing 1000 Human Genome Project that has been going on. For my course Poster Presentation I am planning to delve into this and play with the data and see what all I can find. The 1000 Genomes Project aims to make sequencing data publicly available for 1000 [...]