Source 1review2025MED
Toolkit/whole exome sequencing
whole exome sequencing
Also known as: WES
Taxonomy: Technique Branch / Method. Workflows sit above the mechanism and technique branches rather than replacing them.
Summary
Whole exome sequencing identified two heterozygous variants in the NPHS1 gene, as well as one heterozygous and one homozygous variant in the PLEKHG2 gene.
Usefulness & Problems
Why this is useful
Whole exome sequencing was used to identify coding variants in NPHS1 and PLEKHG2 in the infant. In this paper, it served as the main genetic discovery method.; identifying coding variants in candidate disease genes; genetic workup of complex infant presentations
Source:
Whole exome sequencing was used to identify coding variants in NPHS1 and PLEKHG2 in the infant. In this paper, it served as the main genetic discovery method.
Source:
identifying coding variants in candidate disease genes
Source:
genetic workup of complex infant presentations
Problem solved
It supports genetic investigation when a patient presents with syndromic or multi-system disease features.; detects exonic variants that can support genetic interpretation of renal and neurological phenotypes
Source:
It supports genetic investigation when a patient presents with syndromic or multi-system disease features.
Source:
detects exonic variants that can support genetic interpretation of renal and neurological phenotypes
Problem links
detects exonic variants that can support genetic interpretation of renal and neurological phenotypes
LiteratureIt supports genetic investigation when a patient presents with syndromic or multi-system disease features.
Source:
It supports genetic investigation when a patient presents with syndromic or multi-system disease features.
Taxonomy & Function
Primary hierarchy
Technique Branch
Method: A concrete measurement method used to characterize an engineered system.
Target processes
No target processes tagged yet.
Implementation Constraints
cofactor dependency: cofactor requirement unknownencoding mode: genetically encodedimplementation constraint: context specific validationoperating role: sensor
It requires exome sequencing and downstream variant interpretation.; requires sequencing workflow and variant interpretation
The abstract does not show that WES alone resolved inheritance, functional effect, or the exact mechanism linking PLEKHG2 to LPDs.; the abstract does not provide variant-level validation details; the abstract does not show how causality was resolved beyond likely pathogenic interpretation
Validation
Cell-freeBacteriaMammalianMouseHumanTherapeuticIndep. Replication
Supporting Sources
Ranked Claims
Approval Evidence
1 source1 linked approval claimfirst-pass slug whole-exome-sequencing
Whole exome sequencing identified two heterozygous variants in the NPHS1 gene, as well as one heterozygous and one homozygous variant in the PLEKHG2 gene.
Source:
assay usesupports
Whole exome sequencing identified NPHS1 and PLEKHG2 variants in the reported infant.
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Comparisons
Source-stated alternatives
The abstract does not name alternative genetic testing methods.
Source:
The abstract does not name alternative genetic testing methods.
Source-backed strengths
identified variants in both NPHS1 and PLEKHG2 in the reported infant
Source:
identified variants in both NPHS1 and PLEKHG2 in the reported infant
Compared with Langendorff perfused heart electrical recordings
whole exome sequencing and Langendorff perfused heart electrical recordings address a similar problem space.
Shared frame: same top-level item type
Strengths here: looks easier to implement in practice.
Compared with native green gel system
whole exome sequencing and native green gel system address a similar problem space.
Shared frame: same top-level item type
Strengths here: looks easier to implement in practice.
whole exome sequencing and sub-picosecond pump-probe analysis of bacteriorhodopsin pigments address a similar problem space.
Shared frame: same top-level item type
Strengths here: looks easier to implement in practice.
Ranked Citations
- 1.