Secondary findings from next-generation sequencing: what does actionable in childhood really mean?

We aimed to assess the definition of actionability of secondary findings in childhood, using a screening framework. For 31 disorders on the American College of Medical Genetics and Genomics SF v.2.0 list, World Health Organization screening criteria were applied to assess actionability in childhood....

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Veröffentlicht in:	Genetics in medicine 2019-01, Vol.21 (1), p.124-132
Hauptverfasser:	Richer, Julie, Laberge, Anne-Marie
Format:	Artikel
Sprache:	eng
Schlagworte:	ACMG gene list actionability Adolescent Biomedicine Cancer Child Childhood children and adolescents Female Genetic Diseases, Inborn - diagnosis Genetic Diseases, Inborn - genetics Genetic Diseases, Inborn - pathology Genetic Testing Genome, Human - genetics Genomics Hepatolenticular Degeneration - diagnosis Hepatolenticular Degeneration - epidemiology Hepatolenticular Degeneration - genetics High-Throughput Nucleotide Sequencing Human Genetics Humans Intervention Laboratory Medicine Male Marfan Syndrome - diagnosis Marfan Syndrome - epidemiology Marfan Syndrome - genetics Multiple Endocrine Neoplasia Type 2a - diagnosis Multiple Endocrine Neoplasia Type 2a - epidemiology Multiple Endocrine Neoplasia Type 2a - genetics opportunistic screening Quality Retina Retinoblastoma Retinoblastoma - diagnosis Retinoblastoma - epidemiology Retinoblastoma - genetics secondary findings Tuberous sclerosis Tuberous Sclerosis - diagnosis Tuberous Sclerosis - epidemiology Tuberous Sclerosis - genetics
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