nexus VS gnomad-browser

Blue Brain Project, EPFL | 4 positions | Geneva, Switzerland | FULL-TIME | ONSITE with up to 20% REMOTE | https://www.epfl.ch/research/domains/bluebrain/

Ever wondered how the mouse brain can be digitally reconstructed and simulated?

The Blue Brain Project Neuroinformatics team is recruiting (among other positions) a Scala developer. It’s an exciting time to join, as our open-source technology is maturing, and the computing challenges are growing.

Have a look at the technology you would be working on: https://bluebrainnexus.io/ - data management ecosystem for data-driven science.

And our open-source code: https://github.com/BlueBrain/nexus

We’re constantly iterating and improving, striving to be a product and user centric team. We’re also located 100 meters from Lake Geneva. Free coffee and snacks all day, team activities, flexible working hours including options with remote working within Switzerland. Want to know more? Don’t hesitate to contact me (job description link below).

EPFL takes care of all VISA formalities for non-europeans.

Interview process: introduction call, technical test (do-it-at-home), meet-the-team video conference, on-site or videoconference full-day interview (product, technical, team, HR)

Salary: Swiss federal scale

Work is primarily ONSITE (Geneva, Switzerland) with flexibility to work up to 20% REMOTE.

Interested or need more information? Check out our open positions:

Scala Developer: https://go.epfl.ch/HN_Scala

Frontend Web Developer: https://go.epfl.ch/HN_WebDev

Product Designer: https://go.epfl.ch/HN_Design

Product Manager: https://go.epfl.ch/HN_PM

try one of these: GnomAD (https://gnomad.broadinstitute.org/) 1000 Genomes (http://browser.1000genomes.org) dbSNP (http://www.ncbi.nlm.nih.gov/snp)

Maybe you can ask the opposite question; what are the bounds of of a functional human being. https://gnomad.broadinstitute.org/ GnomAD is a aggregation of healthy human genetic sequences which was primarily built on the aggregated control groups of many genetic sequencing studies. There are studies of this data analysing the co-occurrence of variants in gnomAD which may help.

Maybe something like this? https://promethease.com/ Clinvar for variants that might be of clinical relevance. https://gnomad.broadinstitute.org/ for allele frequencies & some info about variants.

You could look at aggregation databases such as gnomad https://gnomad.broadinstitute.org/ anything with a frequency incompatible with the disease is likely non pathogenic

Broad Institute of MIT and Harvard | Cambridge, MA | Frontend Software Engineer | REMOTE or HYBRID (New England area)

We are hiring a frontend developer to help lead the next phase of the gnomAD browser, a web application for displaying the world's largest collection of human genome/exome sequences. https://gnomad.broadinstitute.org. Looking for applicants who are excited about data visualization and designing complex interfaces for scientific research.

Apply here: http://broad.io/cq7dw8

Broad Institute of MIT and Harvard | New England | Software Engineer | REMOTE/HYBRID

Our team is focused on building the tools necessary to visualize and interpret massive data sets of human genetic variation and functional genomic information. We have developed gnomAD (https://gnomad.broadinstitute.org), the world’s largest public reference dataset of human exomes and genomes. gnomAD has become one of the most widely used resources in the field, and is now the default reference database for virtually all clinical interpretation pipelines, as well as a standard analysis resource for a wide variety of genetic and biological studies. We estimate gnomAD has contributed to the clinical diagnosis of over 2 million patients with genetic disorders.

Your role will be to maintain the gnomAD browser, our open source web application for exploring gnomAD and related datasets, and develop new scientific functionality as we continue to grow to over 1 million human samples. You will work with a team of software engineers, computational biologists and clinical and research users to develop new features and visualizations that incorporate user feedback. Software engineering skills and an interest in user interface design and data visualization are key. Basic familiarity with genomics and DNA sequencing data is preferred, but not required. Most importantly, the ideal candidate will have enthusiasm for playing a critical role in a team-oriented project and learning new domains.

Minimum Requirements

If you're talking about humans, start with gnomAD: https://gnomad.broadinstitute.org/