Evidence map›Paper›PMID 38534348›Full record

ReviewCells2024

Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives.

Petar Brlek, Luka Bulić, Matea Bračić, Petar Projić, Vedrana Škaro, Nidhi Shah, Parth Shah, Dragan Primorac

Open access · goldAbstract readReview
In one paragraph

Review in Cells, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
75citing papers in PubMed, 2 pooled it
55.6field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

75 citing papers in PubMed, 2 syntheses or guidelines pooled it, 101 citations in OpenAlex.

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15 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 3 institutions in 5 countries.

Petar BrlekSt. Catherine Specialty Hospital, 10000 Zagreb, Croatia.ORCID 0000-0001-8022-4095
Luka BulićSt. Catherine Specialty Hospital, 10000 Zagreb, Croatia.ORCID 0000-0001-6522-891X
Matea BračićSt. Catherine Specialty Hospital, 10000 Zagreb, Croatia.ORCID 0000-0002-5068-4530
Petar ProjićInternational Center for Applied Biological Research, 10000 Zagreb, Croatia.
Vedrana ŠkaroGreyledge Europe Ltd., 10000 Zagreb, Croatia.
Nidhi ShahDartmouth Hitchcock Medical Center, Lebannon, NH 03766, USA.ORCID 0000-0003-0851-8376
Parth ShahDartmouth Hitchcock Medical Center, Lebannon, NH 03766, USA.
Dragan PrimoracSt. Catherine Specialty Hospital, 10000 Zagreb, Croatia.ORCID 0000-0001-5565-080X
Dartmouth–Hitchcock Medical Center · USLee College · USUniversity of Osijek · HR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The integration of whole genome sequencing (WGS) into all aspects of modern medicine represents the next step in the evolution of healthcare. Using this technology, scientists and physicians can observe the entire human genome comprehensively, generating a plethora of new sequencing data. Modern computational analysis entails advanced algorithms for variant detection, as well as complex models for classification. Data science and machine learning play a crucial role in the processing and interpretation of results, using enormous databases and statistics to discover new and support current genotype-phenotype correlations. In clinical practice, this technology has greatly enabled the development of personalized medicine, approaching each patient individually and in accordance with their genetic and biochemical profile. The most propulsive areas include rare disease genomics, oncogenomics, pharmacogenomics, neonatal screening, and infectious disease genomics. Another crucial application of WGS lies in the field of multi-omics, working towards the complete integration of human biomolecular data. Further technological development of sequencing technologies has led to the birth of third and fourth-generation sequencing, which include long-read sequencing, single-cell genomics, and nanopore sequencing. These technologies, alongside their continued implementation into medical research and practice, show great promise for the future of the field of medicine.

Indexed as

GenomicsPrecision MedicineGenome, HumanHumansInfant, NewbornPharmacogeneticsWhole Genome Sequencingcancer genomicsmulti-omics integrationnanopore sequencingnext-generation sequencingpharmacogenomicsthird-generation sequencingvariant computational analysiswhole genome sequencing

Identifiers

PMID38534348
PMCPMC10969765
OpenAlexW4392747035

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.