HaploGrep2 publication

Happy to announce the publication of the HaploGrep2 paper in this years Web Server Issue 2016 in Nucleic Acids Research. For data generated with massive parallel sequencing devices in form of fastq or bam files, the mtDNA-Server paper also published in this years issue, gives some details there.

 

Phylotree 17 available

After exactly 2 years, Phylotree, the “database” behind HaploGrep got updated by Mannis van Oven. Here’s the accompanying publication on Phylotree 17 . The mtDNA tree has now 5,437 haplogroups, which is a growth of over 13% to the previous version. Find out how Phylotree 17 differs for your dataset, by using the updated HaploGrep 2 … 

 

1000G Phase 3 mtDNA data available

The 1000 Genome Consortium recently released the Phase 3 mitochondrial DNA data of over 2,500 samples for download, besides their papers in Nature, stating: Mitochondrial chromosome variants are now available for the Phase 3 individuals from our FTP site Since in the current Version HaploGrep 2 can deal with the VCF file (unzipped), all 2500 … 

 

New Feature: Tree-based visualisation of haplogroups

Within the new HaploGrep 2.0 Beta version some new export formats are now supported. One of the most powerful is the export of a phylogenetic tree, representing the current profiles loaded into HaploGrep. This feature generates almost publication-ready  phylogenetic trees. We used them with almost no modification (some color-highlighting in Inkscape) – please see [1]. Click here to … 

 

Importing VCF file to HaploGrep 2.0

With the establishment of NGS-Devices and the resulting data flood, new file formats such as FASTQ, SAM, BAM or VCF became de-facto standards in the bioinformatics data world. Especially the VCF-file containing the variants became of special interest in the user requests lately. There are some python scripts available, that convert a VCF file to a … 

 

rCRS vs. RSRS vs. HG19 (Yoruba)

It’s not always straight forward when working with the human mitochondrial DNA, even if it comes to the question: “what reference sequence do you use?” There should be just one reference and the questions therefore obsolete – what however is not the case. Since the first sequencing of the human mitochondrial genome by Anderson et al. …