gnomad-browser
lowdefy
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gnomad-browser | lowdefy | |
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15 | 49 | |
78 | 2,551 | |
- | 1.3% | |
9.7 | 9.6 | |
3 days ago | 7 days ago | |
TypeScript | JavaScript | |
MIT License | GNU General Public License v3.0 or later |
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For example, an activity of 9.0 indicates that a project is amongst the top 10% of the most actively developed projects that we are tracking.
gnomad-browser
- All identified polymorphisms in a given gene, how to find?
- AskScience AMA Series: We're human genetics researchers here to discuss connections between people in different geographical regions. Ask us anything!
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Converting 23&Me raw data into a format usable by Admixtools 2
try one of these: GnomAD (https://gnomad.broadinstitute.org/) 1000 Genomes (http://browser.1000genomes.org) dbSNP (http://www.ncbi.nlm.nih.gov/snp)
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What is the maximum number of human?
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.
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Insights from personal sequencing data I can explore.
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.
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What are some non-pathogenic alleles of the SNCA gene, or how do I find them?
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
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Ask HN: Who is hiring? (March 2022)
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
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Ask HN: Who is hiring? (February 2022)
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
- Ask HN: How to be my own genetic disease researcher for my partner?
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How to check if a discovered mutation is novel or was discovered before ?
If you're talking about humans, start with gnomAD: https://gnomad.broadinstitute.org/
lowdefy
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Pkl, a Programming Language for Configuration
I'm really enjoying reading through the docs and the tutorial. We've created Lowdefy, a config web-stack which makes it really simple to build quite advanced web apps. We're writing everything in YAML, but it has it's limitations, specifically when doing config type checking and IDE extensions that go beyond just YAML.
I've been looking for a way to have typed objects in the config to do config suggestions and type checking.. PKL looks like it can do this for us. And with the JSON output we might even be able to get there with minimal effort.
Is there anyone here with some PKL experience that would be willing to answer some technical questions re the use of PKL for more advanced, nested config?
See Lowdefy:
https://lowdefy.com/
https://github.com/lowdefy/lowdefy
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Show HN: Retool AI
Awsome! With Lowdefy we tried to build a low-code framework that works like code. We’ve developed a schema in which to define applications and we’ve built all kinds of apps for enterprise customers. Massive, advanced CRM systems, call centre solutions, ticketing systems, a light MRP, all kinds of survey apps and so many dashboards. Even our docs and our website are Lowdefy apps!
Give Lowdefy a try and reach out it you have any questions or want to see what is possible :) (We need to invest a lot more into content and examples, bootstapping is a grind!)
https://github.com/lowdefy/lowdefy
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Launch HN: Refine (YC S23) – Open-Source Retool for Enterprise
Also add Lowdefy onto the list https://github.com/lowdefy/lowdefy
co-founder here :)
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The Surprising Power of Documentation
100% this. And yes, good documentation takes a lot of investment but it pays off like compound interest. But with that done, it becomes even more important not to pull the carpet for no good reason, you are building a tower and documentation is at the foundation.
We’ve built Lowdefy [1] as an open source project and documented it with all effort, 200 pages of docs. I often forget why or how something works and then jump to the docs. This investment keeps on paying of as we use Lowdefy to build customer apps, new devs in the team typically take less than two week to get up to speed and start making contributions, the sharp ones, just a two or three days.
This year, we’re extended our documentation onto customer apps aswell, with flow diagrams, state machine definitions, detailed field level explication schema definitions, and end user test procedures. The key here for this documentation is detail. It should be easier to reach for the docs and the the answer, than to dive in the code and interpret it.
1 - https://github.com/lowdefy/lowdefy
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how to choose a tech stack for a personal project
https://github.com/lowdefy/lowdefy Co-Founder here.
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Ask HN: What have you built more than twice and wish someone had built for you?
Check out https://lowdefy.com/ they even have a sample survey app as one of their examples.
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Looking for a workflow program, any suggestions?
You can build an app that would do this
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AG Grid Community Roundup July 2022
Lowdefy is a low code tool that uses AG Grid as a block component, allowing you to create apps which render data in AG Grid without a lot of coding knowledge. There is a Lowdefy example using AG Grid here.
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Story of raising VC funding for my open-source project
Shameless plug, also check out Lowdefy - https://github.com/lowdefy/lowdefy
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Show HN: ToolJet 1.2 OSS Retool alternative with realtime multiplayer editing
I’m also going to jump in here and say try Lowdefy https://github.com/lowdefy/lowdefy - co-founder here.
We take a different angle and believe that low code should still work like code. We focus on a developer first approach.
What are some alternatives?
webviz - web-based visualization libraries
appsmith - Platform to build admin panels, internal tools, and dashboards. Integrates with 25+ databases and any API.
haystack - :mag: LLM orchestration framework to build customizable, production-ready LLM applications. Connect components (models, vector DBs, file converters) to pipelines or agents that can interact with your data. With advanced retrieval methods, it's best suited for building RAG, question answering, semantic search or conversational agent chatbots.
budibase - Budibase is an open-source low code platform that helps you build internal tools in minutes 🚀
metamask-extension - :globe_with_meridians: :electric_plug: The MetaMask browser extension enables browsing Ethereum blockchain enabled websites
ToolJet - Low-code platform for building business applications. Connect to databases, cloud storages, GraphQL, API endpoints, Airtable, Google sheets, OpenAI, etc and build apps using drag and drop application builder. Built using JavaScript/TypeScript. 🚀
aioli - Framework for building fast genomics web tools with WebAssembly and WebWorkers
streamlit - Streamlit — A faster way to build and share data apps.
Baserow - Open source no-code database and Airtable alternative. Create your own online database without technical experience. Performant with high volumes of data, can be self hosted and supports plugins
QR-Code-generator - High-quality QR Code generator library in Java, TypeScript/JavaScript, Python, Rust, C++, C.
FrameworkBenchmarks - Source for the TechEmpower Framework Benchmarks project
authentik - The authentication glue you need.