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Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy o...

Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy o...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2919743178

Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline

About this item

Full title

Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline

Publisher

Switzerland: MDPI AG

Journal title

Genes, 2024-01, Vol.15 (1), p.136

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

More information

Scope and Contents

Contents

The potential of genome sequencing (GS), which allows detection of almost all types of genetic variation across nearly the entire genome of an individual, greatly expands the possibility for diagnosing genetic disorders. The opportunities provided with this single test are enticing to researchers and clinicians worldwide for human genetic research...

Alternative Titles

Full title

Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2919743178

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2919743178

Other Identifiers

ISSN

2073-4425

E-ISSN

2073-4425

DOI

10.3390/genes15010136

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