Evidence map›Paper›PMID 29727589›Full record

ReviewPhysiological genomics2018

Genome sequencing in the clinic: the past, present, and future of genomic medicine.

Jeremy W Prokop, Thomas May, Kim Strong, Stephanie M Bilinovich, Caleb Bupp, Surender Rajasekaran, Elizabeth A Worthey, Jozef Lazar

Open access · bronzeAbstract readReview
In one paragraph

Review in Physiological genomics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.

0numbers the graph read from it
0cells of the map it votes in
53citing papers in PubMed
2.5field-weighted citation impact, top 11% 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

53 citing papers in PubMed, 90 citations in OpenAlex.

  1. Review
  2. Article
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  5. Review
  6. Unravelling the Complexity of Sarcopenia Through a Systems Biology Approach.International journal of molecular sciences · 2025
    Review
  7. Article
  8. Article
  9. Genomic medicine and personalized treatment: a narrative review.Annals of medicine and surgery (2012) · 2025
    Review
  10. Review
  11. Article
  12. Article
  13. Review
  14. Article
  15. Article
  16. Review
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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 4 institutions in 1 country.

Jeremy W ProkopHudsonAlpha Institute for Biotechnology , Huntsville, Alabama.
Thomas MayHudsonAlpha Institute for Biotechnology , Huntsville, Alabama.
Kim StrongHudsonAlpha Institute for Biotechnology , Huntsville, Alabama.
Stephanie M BilinovichDepartment of Pediatrics and Human Development, Michigan State University , East Lansing, Michigan.
Caleb BuppDepartment of Pediatrics and Human Development, Michigan State University , East Lansing, Michigan.
Surender RajasekaranDepartment of Pediatrics and Human Development, Michigan State University , East Lansing, Michigan.
Elizabeth A WortheyHudsonAlpha Institute for Biotechnology , Huntsville, Alabama.
Jozef LazarHudsonAlpha Institute for Biotechnology , Huntsville, Alabama.
HudsonAlpha Institute for Biotechnology · USSpectrum Health · USMichigan State University · USWashington State University Spokane · US

Funding

Using a Sequence-to-Structure-to-Function Approach to Functionally Characterize Protein Coding Missense Mutations in the Human and Rat GenomesK01ES025435 · NIEHS · MICHIGAN STATE UNIVERSITY · PI PROKOP, JEREMY WILLIAM · 2014 to 2018
$489k
NIEHS NIH HHS K01 ES025435
6 · The paper itself

Abstract

Genomic sequencing has undergone massive expansion in the past 10 yr, from a rarely used research tool into an approach that has broad applications in a clinical setting. From rare disease to cancer, genomics is transforming our knowledge of biology. The transition from targeted gene sequencing, to whole exome sequencing, to whole genome sequencing has only been made possible due to rapid advancements in technologies and informatics that have plummeted the cost per base of DNA sequencing and analysis. The tools of genomics have resolved the etiology of disease for previously undiagnosable conditions, identified cancer driver gene variants, and have impacted the understanding of pathophysiology for many diseases. However, this expansion of use has also highlighted research's current voids in knowledge. The lack of precise animal models for gene-to-function association, lack of tools for analysis of genomic structural changes, skew in populations used for genetic studies, publication biases, and the "Unknown Proteome" all contribute to voids needing filled for genomics to work in a fast-paced clinical setting. The future will hold the tools to fill in these voids, with new data sets and the continual development of new technologies allowing for expansion of genomic medicine, ushering in the days to come for precision medicine. In this review we highlight these and other points in hopes of advancing and guiding precision medicine into the future for optimal success.

Indexed as

AnimalsComputational BiologyDiseaseExome SequencingForecastingGenomicsHigh-Throughput Nucleotide SequencingHumansNeoplasmsPrecision MedicineSequence Analysis, DNAclinical sequencingethicsGWASVUSwhole genome sequencing

Identifiers

PMID29727589
PMCPMC6139636
OpenAlexW2800346446

What OpenQuestion holds

Textmetadata
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.