CFTR Gene Variants in Moroccan Individuals via Nanopore Sequencing

Nada El Makhzen's 2026 study provides nanopore long-read sequencing data for the CFTR gene from 9 Moroccan individuals. The dataset identifies six specific genetic variants, including p.Phe508del and p.Arg1162*, with pathogenicity confirmed via cellular assays. It demonstrates a sequencing and analytical pipeline for variant detection and phasing in an understudied population.

Use Cases

• Identify CFTR gene variants like p.Phe508del and p.Arg1162* from nanopore sequencing data of 9 individuals.
• Assess variant pathogenicity by linking genetic data to experimental results on expression in HEK293 cells.
• Phase genetic variants using the described analytical pipeline to determine haplotype inheritance.
• Analyze the mutational profile of CFTR in a Moroccan cohort to explore genetic heterogeneity.

Strengths

• Data is derived from a specific, modern sequencing technology (Oxford Nanopore R10.4.1 flow cells).
• Includes experimental validation of variant pathogenicity via immuno-blotting in HEK293 cells.
• All identified variants, including p.Ser364Pro and p.Phe1078Ser, were confirmed by Sanger sequencing.
• The study focuses on an under-represented population (Moroccan) for cystic fibrosis genetics.

Limitations

• Very small sample size of 9 individuals limits statistical power and generalizability.
• The dataset is tiny (13.2 KB), indicating it contains summary or processed data, not raw sequencing reads.
• Geographic scope is restricted to Morocco, and findings may not represent other African populations.

Provenance

Source

Nada El Makhzen via figshare.

Collection Method

Whole CFTR gene amplification with 11 primer pairs, sequenced on Oxford Nanopore Technology (ONT) Mk1C device, with variant validation via Sanger sequencing and cellular assays.

Freshness

Last updated March 24, 2026.

Geography

Morocco.