Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline.

Journal Information

Full Title: Genes (Basel)

Abbreviation: Genes (Basel)

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
5/6
83.3% Transparent
Transparency Indicators
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Core Indicators
Evidence found in paper:

"all the data presented in this work were processed with our data analysis pipeline megsap megsap is freely available at https://github com/imgag/megsap .; data availability statement all data presented in this work were processed with our data analysis pipeline megsap megsap is freely available at https://github com/imgag/megsap . table s1 . raw data"

Evidence found in paper:

"all the data presented in this work were processed with our data analysis pipeline megsap megsap is freely available at https://github com/imgag/megsap .; all qc steps described here were performed using tools from ngs-bits which is freely available at https://github com/imgag/ngs-bits .; data availability statement all data presented in this work were processed with our data analysis pipeline megsap megsap is freely available at https://github com/imgag/megsap ."

Evidence found in paper:

"Conflicts of Interest The authors declare no conflict of interest."

Evidence found in paper:

"J.P. was supported by the Clinician Scientist program “PRECISE.net” funded by the Else Kröner–Fresenius–Stiftung."

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

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025