In April, we released GenomeBrowse 2.0, which was a reflection of our most frequent user requests. Users now have the ability to upload genome reference sequences through our Data Conversion Wizard. GenomeBrowse also now supports BED and WIG files as well as several other file formats like BAM, BED, GTF, 2Bit, VCF, FASTA, TSV, and CSV. GenomeBrowse also now includes native integration of Evernote, the ability to access files over a network (FTP or HTTP) or the cloud, and remote control allowing researchers to control GenomeBrowse programmatically via HTTP remote access to integrate GenomeBrowse visualization into already existing workflows.
SVS also received not one, but two major upgrades with the release of 8.2 in August and 8.3 in December. 8.2 introduced MM-KBAC which adjusts for relationships between samples using a random effects matrix with KBAC, gBLUP to predict missing phenotypes, improved runs of homozygosity, and the support of mitochondrial research and clinical testing.
On October 1st, Golden Helix officially entered the clinical testing market with the introduction of VarSeq. VarSeq was created with the help of our clients in research hospitals across the world, with their input, we were able to incorporate the knowledge we gained from applying SVS in clinical settings over the last several years. VarSeq supports both gene panel based diagnostics as well as the application of clinical workflows based on Next-Gen sequencing data. The development of VarSeq in 2015 will be largely guided by our customer’s input.
SVS 8.3 was just released in December and brought our users SKAT-O, a collapsing method for large-N DNA Sequencing analysis, and Bayes C-pi, Bayesian methods to compute additive genetic merits by sample and allele substitution effects (ASE) by marker. Additionally the variance and standard error estimates of pseudo-heritability are now being computed for EMMAX and gBLUP and printed in the node change log.
With 2014 in the bag, we here at Golden Helix thank our customers and community for a wildly successful year and look forward to another great year in 2015. And, we wish all of you the very same.
Happy New Year!