Literature DB >> 32404921

Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG).

Joshua L Deignan1, Elizabeth Chao2, Jennifer L Gannon3,4, Henry T Greely5, Kelly D Farwell Hagman6, Rong Mao7, Scott Topper8.   

Abstract

Entities:  

Keywords:  consent; incidental/secondary finding; parentage; sequencing; variant

Mesh：

Year:  2020        PMID： 32404921     DOI： 10.1038/s41436-020-0821-6

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  3 in total

1.  Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.

Authors:  Jing Duan; Yuanzhen Ye; Dezhi Cao; Dongfang Zou; Xinguo Lu; Li Chen; Jialun Wen; Huafang Zou; Jian Gao; Bingying Li; Zhanqi Hu; Jianxiang Liao
Journal:  Brain       Date:  2022-06-03       Impact factor: 15.255

2.  DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).

Authors:  Lora J H Bean; Maren T Scheuner; Michael F Murray; Leslie G Biesecker; Robert C Green; Kristin G Monaghan; Glenn E Palomaki; Richard R Sharp; Tracy L Trotter; Michael S Watson; Cynthia M Powell
Journal:  Genet Med       Date:  2021-03-31       Impact factor: 8.822

3.  Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.

Authors:  Costanza Varesio; Simone Gana; Alessia Asaro; Elena Ballante; Raffaella Fiamma Cabini; Elena Tartara; Michela Bagnaschi; Ludovica Pasca; Marialuisa Valente; Simona Orcesi; Cristina Cereda; Pierangelo Veggiotti; Renato Borgatti; Enza Maria Valente; Valentina De Giorgis
Journal:  Diagnostics (Basel)       Date:  2021-05-25
  3 in total

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