Whole exome sequencing. A genome sequencing technique that analyzes all protein-coding regions of the genome.
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Jun 21st, 2024
My lab’s vision for the next five years is to apply what we have learned to develop molecules that can alter FA protein behavior. These could be used to treat cancer or alter gene editing outcomes.
Nov 7th, 2024
Institution: Laboratorio de Citogenetica, Instituto Nacional de Pediatría, Mexico City, México Area of expertise: Medical genetics, dysmorphology. My work: I am a medical geneticist from Mexico City, introduced to the field of Fanconi anemia (FA) by my mentor, Dr. Sara Frias, whom...
Jul 22nd, 2024
It took me weeks to come to terms with the fact that there were no easy answers. I couldn't change the past or the diagnosis, so I focused on educating myself and becoming Tinslee's biggest advocate. We underwent all the necessary tests, scans, and procedures, and spent a year going in for lab work and check-ups.