About this website — sources, AI processing, and what you may conclude

What this website is

This website is an information hub about 17q12 Microdeletion Syndrome. It gathers publicly available information — scientific publications, gene and variant databases, hospital and university pages, patient organisations, clinical-trial registries and rare-disease portals — and presents it as a searchable knowledge base, an analysis of what the literature says, and a timeline of what changed.

It is a research and education tool. It is not a diagnostic tool, not a treatment recommender, and not a substitute for professional advice.

Where the data comes from

Every document on this website was found on the public internet by an automated crawler that only visits sources on a curated allowlist (documented on the Sources page) and obeys robots.txt. Nothing here comes from private, paid or patient databases; no personal data of patients is collected or stored.

For every document we keep the original URL, the date it was captured, and a copy of what the page said at that moment. Every conclusion links back to the exact sentence and the archived copy it came from, so you can always check the original.

How it was made — AI-assisted

The collection, structuring, analysis and writing of this website were done with the help of artificial-intelligence / large-language-model (AI/LLM) software, supervised by a human maintainer. Machine learning was used to read the collected documents, extract genes, symptoms and claims, compare them across sources, and draft the plain-language summaries you read here.

AI systems make mistakes. They can misread a sentence, overstate how strong the evidence is, or phrase something in a way that sounds more certain than the underlying sources are. Every effort has been made to check the results against the sources, but no guarantee can be given.

What you may and may not conclude

This website is meant to be informative. Do not draw conclusions from it. If something here matters to you — a symptom, a screening advice, a figure, a statement about inheritance — verify it with the original source linked from that page, and discuss it with a clinical geneticist or your own care team before acting on it.

Numbers on this site (counts of articles, co-occurrence statistics, confidence percentages) describe what the collected corpus says, not necessarily what is true in the world. A link found between a gene and a symptom is an observation about the literature, not proof of cause.

Ownership and takedown

All source material remains the property of its original authors and publishers; it is stored and shown here only as short quotations and archival copies for the purpose of commentary and research, with the source always credited and linked. If you are the owner of a captured document and would like it removed from this website, contact the maintainer and it will be taken down.