Blog

A working guide to reading a genetic report and your own VCF: variant nomenclature, ACMG classification, penetrance, coverage checks, and the commands to verify a call yourself.

A practical guide to the web servers and databases that hold up when you point them at your own genome, transcriptome, and proteomics data, and the steps you should run yourself instead.

A working pipeline for calling deletions, duplications, inversions, and insertions from your own short-read whole-genome sequencing data, including which callers to run, how to merge them, and how to judge whether a call is real.

How 21 CFR Part 820 applies the QMSR to device manufacturers, which devices need design and development controls and how combination products are treated.

A practical guide to annotating your personal VCF with population allele frequencies from gnomAD, 1000 Genomes, and population-specific resources, computing frequencies yourself, and using Hardy-Weinberg equilibrium as a quality-control filter.

How a drug clinical trial is cleared in China, from the 60-working-day rule and the 30-working-day channel to the filings that replace approval.

A practical walkthrough of what a sequencing lab hands you, how to verify it before you trust it, and how to go from raw reads to an annotated variant table you can query yourself.

The thresholds that define a high glucose value, why a CGM reading and a lab draw disagree, and how to analyze your own glucose export instead of reacting to single numbers.

A practical guide to turning an RNA-seq counts matrix into a ranked pathway table, with fgsea and g:Profiler run correctly.

A working pipeline for taking personal bulk RNA-seq from FASTQ to quantified transcripts, quality-controlled expression matrices, and interpretable gene-level signals, with the commands and parameters we use.

A practical pipeline for taking personal bulk RNA-seq FASTQs through quality control, quantification, normalization, and interpretation, with the parameters and failure modes that matter when n=1.

Current out-of-pocket prices for continuous glucose monitors, the cost per day of usable data, and what the data looks like when you export it yourself.

How Annex VIII of Regulation (EU) 2017/746 assigns in vitro diagnostics to classes A, B, C and D, and what each class determines.

A working guide to going from FASTQ files to a gene-level count matrix you trust: reference choice, STAR two-pass alignment, Salmon selective alignment, strandedness, and the QC numbers that tell you whether the run is usable.

A practical pipeline for taking your own whole-blood RNA-seq from FASTQ to a quantified, QC'd expression matrix you can track over time, with the parameters, checks, and failure modes that matter.

A file-by-file walkthrough of RNA-seq output: FASTQ, BAM, quant.sf, count matrices, and QC reports, plus the pipeline and the interpretation rules we would use on your own data.

A practical walkthrough of building a STAR index, running --quantMode GeneCounts, choosing the correct strand column in ReadsPerGene.out.tab, checking alignment quality, and converting raw counts to TPM.

A working guide to building a STAR index, running a two-pass spliced alignment of human RNA-seq, and reading the output files that tell you whether the run is any good.

A working guide to estimating immune and tissue cell-type proportions from your own bulk RNA-seq: getting the expression matrix into the right space, choosing a reference, running marker- and regression-based methods, and checking the output against a blood count.

How device class under Regulation (EU) 2017/745 sets the conformity assessment route, with the Annex IX, X and XI procedures and transitional deadlines.