In the News

ASAJSM Talk: "Espaliers: A Visualization Method for Big Data"

Max Robinson will be giving a talk at the American Statistical Association's Joint Statistical Meeting on Monday, August 10, from 10:55-11:20 am during the Big Data Session on "Espaliers:  A Visualization Method for Big Data".  This session is at the Washington State Convention Center 800 Convention Place, Seattle, WA 98101, Room: Convention Center # 606 (CC-606). 

Family Genomics of Bipolar Guest Lecture

On May 4, 2015 Dr Jared Roach presented a video lecture to NIH as part of the NIH Neuroscience Seminar Series.  

Identification of copy number variants in whole-genome data using Reference Coverage Profiles

We developed a method to identify CNVs in individual genomes, based on comparison to joint profiles pre-computed from a large set of genomes. We analyzed depth of coverage in over 6000 high quality (>40×) genomes. We make available RCPs and tools for performing these analyses on personal genomes

Bipolar risk boosted by accumulation of rare versions of genes

A buildup of rare versions of genes that control the activity of nerve cells in the brain increases a person’s risk for bipolar disorder, researchers suggest in a paper posted online the week of February 16 in Proceedings of the National Academy of Sciences

ISB Releases Kaviar, World’s Largest Public Catalog of Human Genomic Variation

At ISB we have collected these differences from data sources covering nearly 72,000 individuals and integrated them into a catalog called Kaviar (Known Variants). This release of Kaviar contains 151 million different SNVs, some of them occurring in most genomes, some occurring in a small percentage, and the majority occurring quite rarely (e.g.

Genetic Relationship by Averaged Blocks (GRAB) version 0.1

We have released a new set of software for estimating relationships among people using whole genome data.  It is available on the software page and requires Perl and R.  Example data and commands are included in this release.  Please let us know if you have any feedback!

ISCA Plotter

We have released a new set of software that creates a plot describing the different inheritance states in a family quartet. Head to the Software page to read more and download the software!

KAVIAR Released

We present here Kaviar, a tool that greatly simplifies the assessment of novel variants. Kaviar includes: (i) an integrated and growing database of genomic variation from diverse sources, including over 55 million variants from personal genomes, family genomes, transcriptomes, SNV databases and population surveys; and (ii) software for querying the database efficiently.

Haploscribe Released

In a September American Journal of Human Genetics paper, Roach and his colleagues present full-chromosome haplotypes for two nuclear families with four children each, which they generated using whole-genome data on Haploscribe — an algorithm the researchers designed for phasing by genetic analysis.

Geek of the Week: Jared Roach

One of the ISB FGG research scientists, Jared C Roach, was selected for the Geek of the Week by the Geekwire website. Congratulations!