Viewing profile — eweitz

"RP11" is that man from Buffalo who comprises 74% of the human reference genome [1]. [1] https://undark.org/2024/07/09/informed-consent-human-genome-...

Yes. For folks looking for more: * Celera genome, first published 2004: https://www.ncbi.nlm.nih.gov/datasets/genome/GCF_000002115.1... * Human reference genome, first published 20…

User interfaces for biology have drastically improved over the last 10 years. Domain-specific tools like genome browsers, protein viewers, or phylogenetic explorers [1-3] almost al…

https://eweitz.github.io/ideogram/related-genes - gene search recommendation engine paired with a web component for genome visualization

I'm more interested in read speed than write speed. I have about 2 MB of data that I fetch, parse and transform into a nested object for easy look-up by various types of keys. It c…

Some notes towards those ends: WikiPathways supports advanced queries via their SPARQL API and UI. See [1] and [2]. I find WikiPathways nice because it lets logged-in users create …

I created Ideogram.js, a JavaScript library for chromosome visualization [1]. Ideogram supports genomic views to research and report findings on cancer, clinical variants, gene exp…

> refutation of the single source's work Janssens seems less skeptical of 23andMe's paper on polygenic score for type 2 diabetes [1][2], which -- interestingly -- positively cites …

Large genetic datasets yield medical progress by increasing statistical power of tests. These better tests enable earlier and more targeted treatment. Take heart disease. It has a …

UK Biobank has a smaller cohort but deeper and more reliable data. All UK Biobank participants were tested for blood pressure, bone mineral density, grip strength, BMI, etc. The la…

23andMe is CLIA certified and FDA authorized, and makes many medical claims. From [1]: "CLIA certification and CAP accreditation 23andMe laboratory testing is done in U.S. laborato…

> Manhattan has twice the people with half the land area, on an island. Manhattan has twice the residents based on U.S. Census population data, but actual daytime population is mor…

Several major classics are oddly omitted from that list: - "The Art of Computer Programming" (TAOCP) - "The C Programming Language" (K&R) - "Structure and Interpretation of Compute…