Related Experiment Video
Updated: Mar 16, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Expert opinion and caution are imperative for interpretation of next generation sequencing data
Isabelle Thiffault1, Geneviève Bernard2
1Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.
Abstract:
We comment on the recent publication by Khalifa and Naffa who are reporting a young girl with variants in both WDR45 and POLR3A, which they state contribute to her clinical manifestations. We are arguing in this letter that the clinical, MRI, and genetics findings are not compatible with 4H leukodystrophy and that this patient is not affected by this condition.
More Related Videos
13:24Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
06:59Using Next Generation Sequencing to Identify Mutations Associated with Repair of a CAS9-induced Double Strand Break Near the CD4 Promoter
Published on: March 31, 2022
Related Concept Videos
Next-generation Sequencing
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Sanger Sequencing
Evolutionary Relationships through Genome Comparisons
Genome Annotation and Assembly
Multi-species Conserved Sequences
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...