A technical walkthrough of pharmacogenetic star-allele calling from whole-genome data: which genes have real evidence, why CYP2D6 breaks most pipelines, and how to read a diplotype-to-phenotype report without over-trusting it.
Why fasting glucose is often the first value to drift upward, how to tell a real dawn rise from a sensor artifact, and how to analyze your own overnight CGM traces.
A technical answer to what biomarker testing at home can and cannot deliver: which analytes survive a mail-in kit, what dried blood spots and point-of-care sensors are good for, and how to build a longitudinal series you can analyze yourself.
A BUN of 5 mg/dL is almost always a reflection of protein intake, hydration, or liver urea synthesis rather than a problem in itself. Here is how to read it, what to pair it with, and when it deserves a clinician's attention.
A practical guide to the three things people mean by genome mapping, the aligners and flags we would use on a personal whole-genome dataset, and what the compute costs.
A working pipeline for taking raw whole-genome sequencing output (FASTQ, CRAM, VCF) through quality control, annotation, and variant triage, with the specific tools, flags, and thresholds we would use and the failure modes to watch for.
How Article 5(5) of the IVDR allows a health institution to make and use its own in vitro diagnostic, and the nine conditions attached.
A step-by-step guide to processing your own whole-genome and RNA sequencing data, and to validating the pipeline against a truth set.
A working guide to the TopHat/TopHat2 spliced alignment pipeline: when to use it, the exact commands, and the HISAT2 and salmon pipelines we would use for a personal transcriptome today.
A step-by-step guide to indexing a human reference, running bwa mem on 30x whole-genome FASTQs, and producing a sorted CRAM for variant calling.
How Regulation (EU) 2017/745 governs post-market surveillance, PSURs, vigilance reporting deadlines and field safety corrective actions for medical devices.
How to read a non-fasting (random) plasma glucose number, which pre-analytical and physiological factors move it, and what to measure next if you want a real answer about glucose handling.
A practical guide to moving variants, intervals, and gene models between GRCh37, GRCh38, and T2T-CHM13 using chain-based liftover, Liftoff, and LiftOn, with checks that tell you when the result is wrong.
A step-by-step guide to turning raw FASTQ files from whole-genome and RNA sequencing into aligned, called, annotated, and validated results on your own hardware, with the specific tools, flags, and quality thresholds we use.
A practical comparison of mass spectrometry, affinity panels, and aptamer arrays as purchasable proteomics services, with the file formats, tools, and failure modes you should expect if you plan to analyze the data yourself.
A step-by-step bioinformatics workflow for taking bulk RNA sequencing FASTQs from your own blood sample through quantification, quality control, normalization, and interpretation, with the tools, flags, and failure modes named.
What biomarker labs measure, why panel size is a poor proxy for quality, and how to build a blood panel you can reason about over time.
A high fasting glucose usually reflects overnight hepatic glucose output and the pre-waking hormone surge. How to check it in your own CGM export.
A technical guide to DNA methylation testing — arrays versus whole-genome bisulfite sequencing versus nanopore, what the raw files look like, how to process them, and how much of the signal is real.
A working guide to interpreting a genetic test result yourself, from verifying the file to knowing which findings need a clinician.