whole genome sequence analysis
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Indications
- neonatal genetic screening
- diagnostic yield for whole genomic sequencing is higher than a targeted neonatal gene-sequencing, but turnaround time is longer[3]
Notes
- whole-genome sequencing in addition to standard family history of unclear value[2]
- results of whole-genome sequencing initiate inappropriate clinical actions
More general terms
More specific terms
Additional terms
References
- ↑ Dewey FE et al Clinical interpretation and implications of whole-genome sequencing. JAMA 2014 Mar 12; 311:1035. PMID: https://www.ncbi.nlm.nih.gov/pubmed/24618965
Feero WG. Clinical application of whole-genome sequencing: Proceed with care. JAMA 2014 Mar 12; 311:1017 PMID: https://www.ncbi.nlm.nih.gov/pubmed/24618961 - ↑ 2.0 2.1 Vassy JL, Christensen KD, Schonman EF et al The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. Ann Intern Med. June 27, 2017. <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/28654958 <Internet> http://annals.org/aim/article/2633848/impact-whole-genome-sequencing-primary-care-outcomes-healthy-adult-patients
Manolio TA Incorporating Whole-Genome Sequencing Into Primary Care: Falling Barriers and Next Steps. Ann Intern Med. June 27, 2017. <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/28654971 <Internet> http://annals.org/aim/article/2635325/incorporating-whole-genome-sequencing-primary-care-falling-barriers-next-steps - ↑ 3.0 3.1 Maron JL, Kingsmore S, Gelb BD et al Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder. JAMA. 2023;330(2):161-169 PMID: https://www.ncbi.nlm.nih.gov/pubmed/37432431 https://jamanetwork.com/journals/jama/article-abstract/2807081