The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review

Nature·Jun 1

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Research has been conducted on the cost and cost-effectiveness of whole-exome and whole-genome sequencing. The studies suggest that these methods can be used in a cost-effective manner to capture genetic variation and discover new rare genetic diseases. However, the effectiveness and limitations of these sequencing methods in clinical diagnosis and genetic testing are also being explored.

Full coverage

A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner

Nature·Jul 8

Using Whole Exome Sequencing to Discover New Rare Genetic Diseases

Lab Manager·Apr 17

Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyond

Nature·Sep 8

Systematic Review of the Economic Evaluation of Returning Incidental Findings in Genomic Research

Frontiers·Jun 30

HiFi whole genomes could one day replace short-read genome and exome sequencing

PacBio·Apr 27

Limitations of Whole Genome Sequencing in Genetic Testing

3billion·Dec 26

Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders

Nature·Mar 14

Case report: Early use of whole exome sequencing unveils HNRNPU-related neurodevelopmental disorder and answers additional clinical questions through reanalysis

Frontiers·May 22

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