在大规模测序时代，对基因组的深入研究提供了对遗传变异性的更深入的了解，以及遗传变异性如何从同一个体中的几种单遗传疾病的组合中产生复杂的表型。
据估计，在大约 5% 的病例中，患者的表型可以用几种同时存在的遗传性疾病来解释，这是违反直觉的，因为它们传统上被认为是罕见疾病，而且它们共存的先验概率似乎非常罕见。奥卡姆剃刀). Sin embargo hoy en día hemos descubierto que nuestra noción de probabilidad estaba condicionada por un sesgo que imponía la limitación de las técnicas diagnósticas, y en realidad se trata de problemas más frecuentes de lo que se podía pensar a priori. Posiblemente la distribución de este efecto sea heterogénea, acumulándose la mayor parte de los incidentes genéticos de «double-trouble» en aquellas variantes más frecuentes, con penetrancia variable, y de transmisión familiar.
19955111
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温哥华
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默认
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