Genome Interpretation: Clinical Correlation is Recommended

Overview

Journal Appl Transl Genom

Specialty Genetics

Date 2016 Apr 8

PMID 27054075

Citations 4

Authors

Michael M Segal

Affiliations

Soon will be listed here.

Citing Articles

Next-generation variant exon screening: Moving forward in routine genetic disease investigations.

Wang C, Shi P, Liang H, Cram D, Leigh D, Kong X Genet Med Open. 2024; 2:101816.

PMID: 39669605 PMC: 11613558. DOI: 10.1016/j.gimo.2024.101816.

Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians.

Segal M, George R, Waltman P, El-Hattab A, James K, Stanley V Orphanet J Rare Dis. 2020; 15(1):191.

PMID: 32698834 PMC: 7374885. DOI: 10.1186/s13023-020-01461-1.

Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.

Wu C, Devkota B, Evans P, Zhao X, Baker S, Niazi R Eur J Hum Genet. 2019; 27(4):612-620.

PMID: 30626929 PMC: 6460638. DOI: 10.1038/s41431-018-0328-7.

Experience with Integrating Diagnostic Decision Support Software with Electronic Health Records: Benefits versus Risks of Information Sharing.

Segal M, Rahm A, Hulse N, Wood G, Williams J, Feldman L EGEMS (Wash DC). 2018; 5(1):23.

PMID: 29930964 PMC: 5994959. DOI: 10.5334/egems.244.

References

Segal M, Williams M, Gropman A, Torres A, Forsyth R, Connolly A . Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup. J Child Neurol. 2013; 29(4):487-92. DOI: 10.1177/0883073813483365. View

Segal M, Abdellateef M, El-Hattab A, Hilbush B, De La Vega F, Tromp G . Clinical pertinence metric enables hypothesis-independent genome-phenome analysis for neurologic diagnosis. J Child Neurol. 2014; 30(7):881-8. PMC: 4339658. DOI: 10.1177/0883073814545884. View