Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.

Authors:
Einhorn Y; Einhorn M; Kurolap A; Steinberg D; Mory A and 8 more

Journal:
Hum Genomics

Publication Year: 2023

DOI:
10.1186/s40246-023-00472-w

PMCID:
PMC10044388

PMID:
36978159

View on PubMed View on PMC View Publisher
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

Related Papers from Same Journal
A broad wastewater screening and clinical data surveillance for virus-related diseases in the metro…
Li Y; Miyani B; Faust RA and 2 more (2024) - Transparency Score: 3/6
A novel upregulated hsa_circ_0032746 regulates the oncogenesis of esophageal squamous cell carcinom…
Shrestha SM; Fang X; Ye H and 3 more (2024) - Transparency Score: 4/6
Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.
Ju Y; Chen T; Ruan L and 3 more (2024) - Transparency Score: 3/6
Solanidine is a sensitive and specific dietary biomarker for CYP2D6 activity.
Kiiski JI; Neuvonen M; Kurkela M and 10 more (2024) - Transparency Score: 3/6
Wastewater-based epidemiology applied at the building-level reveals distinct virome profiles based …
Mejías-Molina C; Pico-Tomàs A; Martínez-Puchol S and 7 more (2024) - Transparency Score: 4/6
View All Papers from This Journal
Transparency Score
3/6
50.0% Transparent
Transparency Indicators
Click on green indicators to view evidence text
Core Indicators
Data Sharing
Code Sharing
Evidence found in paper:

"Declarations Ethics approval and consent to participateThis study was entirely based on secondary analysis of de-identified data. Clinical consent was obtained from each participant regarding storage of genetic sequencing, and access to available electronic health record data. Consent for publicationNot applicable. Competing interestsME, YE and DS are Genoox employees. YY receives consulting fees from Genoox. The remaining authors declare no competing interests. Competing interests ME, YE and DS are Genoox employees. YY receives consulting fees from Genoox. The remaining authors declare no competing interests."

Evidence found in paper:

"Funding This work was not supported by research grants."

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