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gnomad-browser reviews and mentions
- All identified polymorphisms in a given gene, how to find?
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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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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
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Ask HN: How to be my own genetic disease researcher for my partner?
If you truly think this is a rare disease, it's very likely that there's just one single causal mutation in your partner's genome. The easiest way to find that is to:
1. Find variants in the genome where the allele frequency is close to 0 or 0 in https://gnomad.broadinstitute.org/
2. Look into variant effects using https://www.ensembl.org/info/docs/tools/vep/index.html
If you need help contact is on my email. I do this for a living.
rsIDs are a minefield as they change often, there are synonyms and probably you won't have all loci properly annotated.
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Ask HN: Who is hiring? (July 2021)
Broad Institute of MIT and Harvard | Cambridge, MA | Associate Software Engineer | Onsite
We are seeking an associate software engineer interested in contributing to an open-source data visualization library for analyzing the biological impact human genetic variation. You will contribute to projects like gnomAD (https://gnomad.broadinstitute.org), the world's largest catalogue of human genetic variation used by hundreds of thousands of researchers and help us scale towards millions of genomes in the coming years. We are also developing next-generation tools for enabling genetic analyses of large biobanks across richly phenotyped individuals (https://genebass.org). In this role you will gain experience developing data-intensive web applications with Typescript, React, Python, Terraform, Google Cloud Platform, and will make use of the scalable data analysis library Hail (https://hail.is). Key to our success is growing a strong team with a diverse membership who foster a culture of continual learning, and who support the growth and success of one another. Towards this end, we are committed to seeking applications from women and from underrepresented groups. We know that many excellent candidates choose not to apply despite their capabilities; please allow us to enthusiastically counter this tendency.
Please provide a CV and links previous work or projects, ideally with contributions visible on Github.
email: [email protected]
- Ask HN: Who is hiring? (April 2021)
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A note from our sponsor - InfluxDB
www.influxdata.com | 29 Mar 2024
Stats
broadinstitute/gnomad-browser is an open source project licensed under MIT License which is an OSI approved license.
The primary programming language of gnomad-browser is TypeScript.
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