Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases.

Authors:
Alix T; Chéry C; Josse T; Bronowicki JP; Feillet F and 4 more

Journal:
Hum Genomics

Publication Year: 2023

DOI:
10.1186/s40246-023-00455-x

PMCID:
PMC9899384

PMID:
36740706

Journal Information

Full Title: Hum Genomics

Abbreviation: Hum Genomics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
3/6
50.0% Transparent
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Core Indicators
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Evidence found in paper:

"Declarations Competing interestsThe authors who have participated in this study declare that they do not have anything to disclose regarding conflicts of interest concerning this manuscript. Competing interests The authors who have participated in this study declare that they do not have anything to disclose regarding conflicts of interest concerning this manuscript."

Evidence found in paper:

"Funding This study was funded by INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure. University Hospital of Nancy."

Protocol Registration
Open Access
Paper is freely available to read
Additional Indicators
Replication
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Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025