Evidence map›Paper›PMID 24009664›Full record

ArticlePloS one2013

Systematic pharmacogenomics analysis of a Malay whole genome: proof of concept for personalized medicine.

Mohd Zaki Salleh, Lay Kek Teh, Lian Shien Lee, Rose Iszati Ismet, Ashok Patowary, Kandarp Joshi, Ayesha Pasha, Azni Zain Ahmed, Roziah Mohd Janor, Ahmad Sazali Hamzah and 7 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.8field-weighted citation impact, top 9% 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

11 citing papers in PubMed, 30 citations in OpenAlex.

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  11. Time for the zebrafish ENCODE.Journal of genetics · 2013
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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

17 authors at 2 institutions in 2 countries.

Mohd Zaki SallehIntegrative Pharmacogenomics Institute (iPROMISE), Universiti Teknologi MARA (UiTM) Malaysia, Puncak Alam, Selangor, Malaysia. zakisalleh@puncakalam.uitm.edu.my
Lay Kek Teh
Lian Shien Lee
Rose Iszati Ismet
Ashok Patowary
Kandarp Joshi
Ayesha Pasha
Azni Zain Ahmed
Roziah Mohd Janor
Ahmad Sazali Hamzah
Aishah Adam
Khalid Yusoff
Boon Peng Hoh
Fazleen Haslinda Mohd Hatta
Mohamad Izwan Ismail
Vinod Scaria
Sridhar Sivasubbu
Universiti Teknologi MARA · MYInstitute of Genomics and Integrative Biology · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundWith a higher throughput and lower cost in sequencing, second generation sequencing technology has immense potential for translation into clinical practice and in the realization of pharmacogenomics based patient care. The systematic analysis of whole genome sequences to assess patient to patient variability in pharmacokinetics and pharmacodynamics responses towards drugs would be the next step in future medicine in line with the vision of personalizing medicine.

methodsGenomic DNA obtained from a 55 years old, self-declared healthy, anonymous male of Malay descent was sequenced. The subject's mother died of lung cancer and the father had a history of schizophrenia and deceased at the age of 65 years old. A systematic, intuitive computational workflow/pipeline integrating custom algorithm in tandem with large datasets of variant annotations and gene functions for genetic variations with pharmacogenomics impact was developed. A comprehensive pathway map of drug transport, metabolism and action was used as a template to map non-synonymous variations with potential functional consequences. PRINCIPAL

findingsOver 3 million known variations and 100,898 novel variations in the Malay genome were identified. Further in-depth pharmacogenetics analysis revealed a total of 607 unique variants in 563 proteins, with the eventual identification of 4 drug transport genes, 2 drug metabolizing enzyme genes and 33 target genes harboring deleterious SNVs involved in pharmacological pathways, which could have a potential role in clinical settings.

conclusionsThe current study successfully unravels the potential of personal genome sequencing in understanding the functionally relevant variations with potential influence on drug transport, metabolism and differential therapeutic outcomes. These will be essential for realizing personalized medicine through the use of comprehensive computational pipeline for systematic data mining and analysis.

Indexed as

Genome, HumanAsian PeopleBiomarkersChromosome MappingComputational BiologyFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenomicsHigh-Throughput Nucleotide SequencingHumansMalaysiaMaleMiddle AgedPharmacogeneticsPolymorphism, Single NucleotideBiomarkers

Identifiers

PMID24009664
PMCPMC3751891
OpenAlexW1992453006

What OpenQuestion holds

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Registered trials

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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.