Intellectual disability genomics: current state, pitfalls and future challenges

Intellectual disability genomics: current state, pitfalls and future challenges

Abstract Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic heterogeneity, as well as the difficulty in the establishment of the inheritance pattern, often result in...

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Bibliographic Details
Main Authors: Nuno Maia, Maria João Nabais Sá, Manuel Melo-Pires, Arjan P. M. de Brouwer, Paula Jorge
Format: Article
Language:English
Published: BMC 2021-12-01
Series:BMC Genomics
Subjects:
Neurodevelopmental disorders
Intellectual disability
Massive parallel sequencing
Variant filtering
Variant prioritization
Animal and cellular modelling
Online Access:https://doi.org/10.1186/s12864-021-08227-4

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https://doi.org/10.1186/s12864-021-08227-4

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