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DNA methylation at a nutritionally sensitive region of the PAX8 gene is associated with thyroid volume and function in Gambian children

PAX8 is a key thyroid transcription factor implicated in thyroid gland differentiation and function, and PAX8 gene methylation is reported to be sensitive to the periconceptional environment…

The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

Polygenic risk scores (PRSs) are estimates of an individual’s susceptibility to a specific complex trait obtained by aggregating the effects of dozens, thousands, and potentially millions of genetic variants associated with that specific trait into a single figure.

Condenan a un laboratorio a pagar 700.000 euros por no detectar una enfermedad en una bebé con el test prenatal

Un juzgado considera que la «defectuosa» realización de la prueba motivó la privación a los padres de su derecho a interrumpir el embarazo. La pequeña nació con el Síndrome de Maullido del Gato.