gnomad-browser
serverless-graphql
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gnomad-browser | serverless-graphql | |
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15 | 215 | |
78 | 2,708 | |
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9.7 | 0.0 | |
3 days ago | over 1 year ago | |
TypeScript | JavaScript | |
MIT License | MIT License |
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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 worldβs 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/
serverless-graphql
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Testing AWS Lambda Functions (Serverless Framework) with OpenTelemetry and Tracetest
Since then, the ecosystem has changed. Using the Serverless Framework makes deployment simpler. We released the managed Tracetest App making any serverless-based systems simpler to instrument and test. You can now test public-facing apps with no infra overhead!
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The 2024 Web Hosting Report
We see some great results from using these in conjunction with frameworks such as SST or Serverless, and also some real spaghetti from people who organically proliferate 100βs of functions over time and lose track of how they relate to each other or how to update them safely across time and service. Buyer beware!
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Deploy app to AWS by using Serverless Framework
When we think about AWS serverless service, the first thing that comes to our mind is Lambda function. Yes, the quickest way to deploy this backend Express JS app to AWS is to deploy it as a Lambda function. The easiest way is using Serverless Framework.
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Lambda Scheduling & Event Filtering with EventBridge using Serverless Framework
Serverless Framework: https://www.serverless.com/
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The Top 10 GitHub Repositories Making Waves ππ
Github | Website
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Instrumenting AWS Lambda functions with OpenTelemetry SDKs
In this example, we're using the serverless framework to quickly set up the Lambda function along with an API gateway for the entry point. The lambda function is a simple Koa REST API with a few functional endpoints.
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A Beginner's Guide to the Serverless Application Model (SAM)
Naturally, there are several options available to declare your cloud resources. The options with the most popularity are the CDK, AWS CloudFormation, SST, Serverless framework, Terraform, and AWS SAM. There are others, but when talking about Infrastructure as Code (IaC), these are the ones you hear about most often.
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π₯ The Best Serverless Framework in 2023: A Data-Driven Showdown for AWS Projects
1 - Serverless + AWS CDK + Lift: An integration that amps up the traditional Serverless Framework with Lift's static frontend construct and CDK's robust infra definition.
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Serverless Semantic Search, Free tier only
It's a bit easier in Python if you use tools like https://www.serverless.com/. I'm not sure if Rust has something similar yet.
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Trace-based Testing AWS Lambda with Tracetest, ECS Fargate, and Terraform
Serverless
What are some alternatives?
webviz - web-based visualization libraries
LocalStack - π» A fully functional local AWS cloud stack. Develop and test your cloud & Serverless apps offline
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.
Serverless-Boilerplate-Express-TypeScript - πππ Boilerplate and Starter for Serverless framework, ExpressJS, TypeScript, Prisma and MongoDB β‘οΈ Made with developer experience first: Serverless framework + Live reload + Offline support + ExpressJS + TypeScript + ESLint + Prettier + Husky + Commitlint + Lint-Staged + Jest + Dotenv + esbuild + VSCode
metamask-extension - :globe_with_meridians: :electric_plug: The MetaMask browser extension enables browsing Ethereum blockchain enabled websites
copilot-cli - The AWS Copilot CLI is a tool for developers to build, release and operate production ready containerized applications on AWS App Runner or Amazon ECS on AWS Fargate.
aioli - Framework for building fast genomics web tools with WebAssembly and WebWorkers
terraform - Terraform enables you to safely and predictably create, change, and improve infrastructure. It is a source-available tool that codifies APIs into declarative configuration files that can be shared amongst team members, treated as code, edited, reviewed, and versioned.
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
electrodb - A DynamoDB library to ease the use of modeling complex hierarchical relationships and implementing a Single Table Design while keeping your query code readable.
FrameworkBenchmarks - Source for the TechEmpower Framework Benchmarks project
chalice - Python Serverless Microframework for AWS