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Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.

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第一作者： Kristen M,Wigby

第一单位： University of California, Davis, CA, USA. kmwigby@ucdavis.edu.;Rady Children's Institute for Genomic Medicine, San Diego, CA, USA. kmwigby@ucdavis.edu.

作者： Kristen M,Wigby ^[1] ; Deanna,Brockman ^[2] ; Gregory,Costain ^[3] ; Caitlin,Hale ^[4] ; Stacie L,Taylor ^[5] ; John,Belmont ^[6] ; David,Bick ^[7] ; David,Dimmock ^[8] ; Susan,Fernbach ^[9] ; John,Greally ^[10] ; Vaidehi,Jobanputra ^[11] ; Shashikant,Kulkarni ^[9] ; Elizabeth,Spiteri ^[4] ; Ryan J,Taft ^[5]

作者单位： University of California, Davis, CA, USA. kmwigby@ucdavis.edu.;Rady Children's Institute for Genomic Medicine, San Diego, CA, USA. kmwigby@ucdavis.edu. ^[1] Massachusetts General Hospital, Boston, MA, USA. ^[2] The Hospital for Sick Children, Toronto, CA, USA. ^[3] Stanford Healthcare, Palo Alto, CA, USA. ^[4] Illumina Inc, San Diego, CA, USA. ^[5] Genetics & Genomics Services Inc, Houston, TX, USA. ^[6] Genomics England Ltd, London, UK. ^[7] Rady Children's Institute for Genomic Medicine, San Diego, CA, USA. ^[8] Baylor College of Medicine, Houston, TX, USA. ^[9] Albert Einstein College of Medicine, Bronx, NY, USA. ^[10] New York Genome Center, New York, NY, USA. ^[11]

DOI 10.1038/s41525-024-00396-x

PMID 38409289

发布时间 2024-02-29

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NPJ genomic medicine

2024年9卷1期

15页

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NPJ genomic medicine

2024年9卷1期

15页

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Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.

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Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.

NPJ genomic medicine

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NPJ genomic medicine

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