My son is profoundly intellectually disabled. What genetic tests would you want run for a case of intellectual disability? This is a serious and honest question of immediate and critical importance to me personally. If you have an answer or other suggestions please reach out!
Thank you for writing so openly. I can't be authoritative how one would best conduct the analysis in 2023, but can say that the trio (you, your son, and your son's mother) should all have your whole genomes sequenced. I will try to find out more about coverage for sequencing and state of the art for the analysis over the weekend. Please write directly.
Roger Brent
Professor of Basic Sciences, Fred Hutch
Affiliate Professor, Department of Genome Sciences, UW
Dr. Nava Whiteford
ASeq Newsletter
Substack
Dear Dr. Whiteford,
Thank you for writing so openly. I can't be authoritative how one would best conduct the analysis in 2023, but can say that the trio (you, your son, and your son's mother) should all have your whole genomes sequenced. I will try to find out more about coverage for sequencing and state of the art for the analysis over the weekend. Please write directly.
Roger Brent
Professor of Basic Sciences, Fred Hutch
Affiliate Professor, Department of Genome Sciences, UW
rbrent at fhrcrc dot org
You might find some utility from the DECIPHER project: https://www.deciphergenomics.org/about/stats - there are currently three member projects in Japan marked up on the map.