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whole genome sequence analysis
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
Related
genome
Specific
influenza virus whole genome sequencing
General
genome sequencing
References
- Dewey FE et al
Clinical interpretation and implications of whole-genome
sequencing.
JAMA 2014 Mar 12; 311:1035.
PMID: 24618965
- Feero WG.
Clinical application of whole-genome sequencing: Proceed
with care.
JAMA 2014 Mar 12; 311:1017
PMID: 24618961
- 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.
PMID: 28654958
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.
PMID: 28654971
http://annals.org/aim/article/2635325/incorporating-whole-genome-sequencing-primary-care-falling-barriers-next-steps
- 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: 37432431
https://jamanetwork.com/journals/jama/article-abstract/2807081