【摘 要】
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We have reported clinical exome sequencing results for over 4000 patients,most of which are pediatric patients with neurological manifestations,since October 2011 and have achieved a molecular diagnos
【机 构】
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Whole Genome Laboratory,Baylor College of Medicine,Houston,TX
【出 处】
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The 2nd International Rare Diseases Research Consortium Conf
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We have reported clinical exome sequencing results for over 4000 patients,most of which are pediatric patients with neurological manifestations,since October 2011 and have achieved a molecular diagnosis rate of approximately 25％ for known disease genes.The inheritance patterns of the contributing Mendelian diseases included 53％ autosomal dominant,34％ autosomal recessive,12％ X-linked and less than 1％ mitochondrial.Rare genetic events such as de novo variants,mosaicism and uniparental disomy were discovered,which further facilitate understanding of the etiology of Mendelian disorders.
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