gnomad-browser VS zotero

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/

Maybe try Zotero[1]. There are many addons which can do what you need.

[1]https://www.zotero.org/

And next time, you use a real literature management program like zotero (some university libraries offer classes, there is a r/zotero, etc) or jabref to create a proper bibtex file with the references. It is not that difficult, and keeps you sane (esp. if a paper has to be formatted for a different publisher). See e.g. learnlatex.

Zotero | Remote | Full-Time or Part-Time | https://www.zotero.org

Zotero is an open-source project that develops software to help people collect, organize, annotate, cite, and share their research. Our software is recommended by most universities and used by millions of students, scholars, scientists, and researchers worldwide.

We're looking for a JavaScript developer to work on Zotero "translators" — the pieces of code that let people click a button in their browser toolbar on any webpage and save high-quality metadata and files to their Zotero libraries. If you like web scraping, APIs, data formats, and exploring sites in the browser devtools, this would be up your alley. As a core Zotero developer, you'll also have the ability to work across Zotero's vast ecosystem and help shape the future of the project.

This is an open-ended contract role that can scale up and down in hours based on availability and workload.

https://www.zotero.org/jobs

Zotero is your answer, it even auto generates your citations.

https://www.zotero.org/

Apparently there are plugins for Logseq and Obsidian as well.

Zotero - Price: Free Free and open-source reference manager that helps you collect, organize, and cite your research sources.

I use the free and open source Zotero which I think you'd find very calibre-like and manage notes and concept linking with org-roam in emacs.

If you can't hold the urge to know, you can check on the Zotero web library if all of your things are still there

Resources: ZOTERO. Zotero is a free (you can pay to get more storage), open-source citation manager with optional browser plugins. IT WILL FORMAT CITATIONS FOR YOU. (sometimes you have to edit them, but most of the time it can pull metadata and format things correctly on its own). You can sort your references into folders or with tags, read and annotate PDF copies on your computer or in a mobile app, and make notes - which I used to keep track of specific quotations I wanted to use.

You can also use online resources like The Encyclopedia of Archaeological Sciences, that I think is mostly free or the Handbook of Archaeological Sciences which I think is also mostly free. If you can't get a hold of those things you can also email the authors/editors and they might send you a free copy or look them up on Academia.edu and see if they have a free version. Also, if you don't already, use Google Scholar, it's the best resource for finding free articles and topics to read. It's also never too early to start using something like Zotaro, Mendeley, or Endnote to keep track of your readings and help you with citations/references in papers. You can literally download the citation, import it into one of those systems and it automatically formats your referencing.