gnomad-browser VS grouparoo

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/

Reverse ETL is on AirByte's roadmap under the "Future / Not prioritized" section. I wanted to use Grouparoo as a short term solution, but the repo was archived and I think they stopped taking new cloud customers (unknown if this is wrong/outdated).

There are other tools that we will have to adopt in the future but haven’t yet due to lack of necessity. Specifically, one category that is popular in modern data stacks is Reverse ETL (Hightouch, Census, or Grouparoo). We currently don’t have a usecase for piping data back into 3rd party tools but it will definitely come up in the future.

Reverse ETL: Grouparoo, Castled

Grouparoo, the open source Reverse ETL tool we are building, does all of these things. https://www.grouparoo.com

Ingestion / ETL: Airbyte, Singer, Jitsu Transformation: dbt Orchestration: Airflow, Dagster Testing: GreatExpectations Observability: Monosi Reverse ETL: Grouparoo, Castled Visualization: Lightdash, Superset

Grouparoo | Remote (US) | Remote-OK | https://www.grouparoo.com

Grouparoo is a venture-backed software company building open source data tools that make data reliable, accessible, and actionable. We’re empowering teams to make great customer experiences, driven by data. While engineering teams have gotten good at storing and generating data about their customers, it’s rare that this data is used to its full potential in external applications. Grouparoo makes these integrations easy by providing a framework for defining your customer data and reliably syncing it to external tools.

To learn more about who we are, our engineering culture, and whether this is the right place for you, read our Key Values profile: https://www.keyvalues.com/grouparoo

Here are our open roles:

- Senior Backend / Lead Engineer: https://jobs.lever.co/grouparoo/6ba485d1-a5a4-41f0-9fa5-920a...

- Developer Advocate: https://jobs.lever.co/grouparoo/5e1531b4-7ec8-4c10-8e52-fc23...

Tech Stack: TypeScript / Javascript / Node.js, ActionHero, React + Next.js, Postgres & Redis, and whole lot of third-party APIs!

Congrats on the launch! Hightouch looks great and this need is real. Things seem to be going well, so I don't think I'm taking too much away by mentioning that we have been been working on Grouparoo, an open source alternative that solves similar pain points.

A few differences: git developer workflow focused (branches, CI, PRs, etc), ability to self host, segmentation in destinations (tagging people in mailchimp based on rules, for example)

https://www.grouparoo.com

We are building Grouparoo. Obviously, it's a biased sample but we are seeing a few trends at play.

Has anyone heard or used of reverse etl or Hightouch or open sourced Grouparoo?