Výsledky vyhledávání - "diagnostic exome sequencing"

Akademický článek

Hope, but never expect? Comparing parents' pre‐ and post‐disclosure attitudes toward return of results from diagnostic exome sequencing for their child

Autor: Candice Cornelis, Aad Tibben, Eva Brilstra, Ineke Bolt, Marieke vanSummeren, Nine Knoers, Annelien L. Bredenoord

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)

Abstract Background Counseling for whole‐exome sequencing (WES) could benefit from aligning parents' pre‐ and post‐disclosure attitudes. A few studies have qualitatively compared parents' pre‐ and post‐disclosure attitudes toward receiving

Externí odkaz: https://doaj.org/article/8e83d8c3ef4d4028a700d21be24c510b

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Akademický článek

Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes

Autor: Rini, Christine, Henderson, Gail E., Evans, James P., Berg, Jonathan S., Foreman, Ann Katherine M., Griesemer, Ida, Waltz, Margaret, O’Daniel, Julianne M., Roche, Myra I.

Publikováno v: In Genetics in Medicine January 2020 22(1):60-68

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Akademický článek

A retrospective review of multiple findings in diagnostic exome sequencing: halF.A.re distinct and halF.A.re overlapping diagnoses

Autor: Smith, Erica D., Blanco, Kirsten, Sajan, Samin A., Hunter, Jesse M., Shinde, Deepali N., Wayburn, Bess, Rossi, Mari, Huang, Jennifer, Stevens, Cathy A., Muss, Candace, Alcaraz, Wendy, Hagman, Kelly D. Farwell, Tang, Sha, Radtke, Kelly

Publikováno v: In Genetics in Medicine October 2019 21(10):2199-2207

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Akademický článek

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data

Autor: Javier Lanillos, Marta Carcajona, Paolo Maietta, Sara Alvarez, Cristina Rodriguez-Antona

Publikováno v: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)

Abstract Exome sequencing is utilized in routine clinical genetic diagnosis. The technical robustness of repurposing large-scale next-generation sequencing data for pharmacogenetics has been demonstrated, supporting the implementation of preemptive p

Externí odkaz: https://doaj.org/article/2e37d58089b04e1999d8939f1aaac0f5

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