Whole exome sequencing. A genome sequencing technique that analyzes all protein-coding regions of the genome.
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By Sarah Borden Our lives changed forever the day we learned our son Eli was diagnosed with Fanconi anemia. Just days earlier, we had celebrated his fourth birthday with family and friends, blissfully unaware of the journey ahead. When faced...

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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...