Blog

An annotated alignment record from a 30x human whole-genome BAM, plus the samtools commands we use to inspect a new file and the failure modes worth checking first.

A practical guide to opening and inspecting BAM alignment files: samtools on the command line, IGV for visual review, and the checks worth running before you trust a variant call.

A baseline blood test is only useful if it establishes your personal set point under controlled conditions and lands in a file you can compute on. Here is the panel we would order, the preanalytical controls that matter, and the math for deciding when a later change is real.

When an IND is required under 21 CFR Part 312, the exemptions, and the informed consent and investigator duties that govern FDA-regulated drug trials.

30x means an average of 30 reads covering each base of your genome, which is enough for confident germline SNV and small-indel calling across roughly 90-95% of the reference. Here is the coverage math, the files you should insist on, and the QC steps we would run before trusting a single variant.

A working guide to RNA-seq analysis for one person's data: library choices, depth, QC thresholds, and how to analyze repeated samples.

How to get a useful AI-generated report from your own DNA data, which file formats matter, and where the interpretation breaks down.

A practical guide to DeepMind's AlphaGenome model: what it outputs, how to call the API on your own variants, and how to check its predictions.

A practical guide to running ANNOVAR on a personal whole-genome VCF: which databases to download, the exact table_annovar.pl command, how to normalize input, and how transcript choice changes the answer.

A practical survey of proteomics applications, the main measurement methods, and what you can do with your own plasma protein data once you have the files.

Population reference intervals are built from non-athletes, and the few published athlete cohorts are wide and sport-specific. The usable answer is a personal baseline with a computed reference change value.

Breakthrough therapy, conditional approval, priority review and special approval for drugs in China, and which of them shortens a review period.

For germline variant calling, 30x is sufficient and 100x adds little. Deep coverage pays off for mosaicism, mitochondrial heteroplasmy, structural variants, and cell-free DNA. Here is how to tell which case you are in, and what to check in your own BAM.

A plain account of what sequencing your own genome produces, which files and tools matter, and where the genome stops being informative.

A normal HbA1c with high glucose readings is common and usually explained by red cell turnover, postprandial spikes averaging out, or assay interference. Here is how to tell which, and what to measure next.

A practical guide to setting up the Integrative Genomics Viewer for personal whole-genome, RNA-seq, and copy-number data, including file indexing, pileup interpretation, batch scripting, and the failure modes that produce false confidence.

How 42 CFR Part 493 and the in vitro diagnostic definition in 21 CFR Part 809 treat a test that a laboratory develops, modifies and runs itself.

An AA call at rs1801133 is the same variant as 677TT, reported on the other strand. How to verify it in your own data, and what to measure next.

Ultima Genomics is a privately held sequencing company in Newark, California whose UG 100 platform uses an open silicon wafer and flow-based chemistry to push sequencing toward $1 per gigabase. Here is how the instrument works, what the output files look like, and the pipeline changes flow-based reads require.

RDW measures how much your red blood cells vary in size. This page explains what the analyzer is computing, why 15.9% is flagged high, how to read RDW alongside MCV and hemoglobin, and how to track it as a longitudinal signal in your own data.