Evidence map›Paper›PMID 42310464›Full record

ArticleNature2026

Analysis of 173,303 exomes and genomes in the Pakistan Genome Resource.

Christopher Koch, Shareef Khalid, Maleeha Zaman Khan, Shruthi Bandyadka, Brian Doyon, Daniel P Denning, Muhammad Jahanzaib, Muhammad Rehan Mian, Wafa Gul, Muhammad Bilal Liaqat and 68 more

Abstract read
In one paragraph

Article in Nature, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Article
  2. Cardiovascular pharmacology of dopaminergic agents in humans: a review.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2026
    Review
  3. Article
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

78 authors.

Christopher KochBiomedical Research at Novartis, Cambridge, MA, USA. christopher-1.koch@novartis.com.ORCID http://orcid.org/0009-0006-1293-2333
Shareef KhalidColumbia University Irving Medical Center, New York, NY, USA.
Maleeha Zaman KhanCenter for Non-Communicable Diseases, Karachi, Pakistan.
Shruthi BandyadkaBiomedical Research at Novartis, Cambridge, MA, USA.
Brian DoyonBiomedical Research at Novartis, Cambridge, MA, USA.
Daniel P DenningBiomedical Research at Novartis, Cambridge, MA, USA.
Muhammad JahanzaibCenter for Non-Communicable Diseases, Karachi, Pakistan.
Muhammad Rehan MianCenter for Non-Communicable Diseases, Karachi, Pakistan.
Wafa GulCenter for Non-Communicable Diseases, Karachi, Pakistan.
Muhammad Bilal LiaqatCenter for Non-Communicable Diseases, Karachi, Pakistan.
Aneeqa BanoCenter for Non-Communicable Diseases, Karachi, Pakistan.
Marium DaharCenter for Non-Communicable Diseases, Karachi, Pakistan.
Namra SaqibCenter for Non-Communicable Diseases, Karachi, Pakistan.
Lubna KamaniDepartment of Gastroenterology, Liaquat National Hospital, Karachi, Pakistan.
Nazish ButtDepartment of Gastroenterology, Jinnah Postgraduate Medical Centre, Karachi, Pakistan.
Anjum JalalPunjab Institute of Cardiology, Lahore, Pakistan.
Riffat SultanaKarachi Institute of Heart Diseases, Karachi, Pakistan.
Shahid AbbasFaisalabad Institute of Cardiology, Faisalabad, Pakistan.
Musfireh SiddiqehRawalpindi Institute of Cardiology, Rawalpindi, Pakistan.
Muhammad HaroonDepartment of Rheumatology, Fatima Memorial Hospital and FMH College of Medicine and Dentistry, Lahore, Pakistan.
Asadullah KhanDepartment of Rheumatology, Bolan Medical Complex Hospital, Quetta, Pakistan.ORCID http://orcid.org/0000-0001-8067-0124
Khalid Parvez BabarDepartment of Rheumatology, Madinah Teaching Hospital, University Medical and Dental College, Faisalabad, Pakistan.
Aflak RasheedDepartment of Rheumatology, Shaikh Zayed Medical Complex, Lahore, Pakistan.
Javed IqbalDepartment of Neurology, Allied Hospital, Faisalabad, Pakistan.
Faizan AslamDepartment of Neurology, Aziz Fatima Hospital, Faisalabad, Pakistan.
Umar UsmanDepartment of Pulmonology, Allied Hospital, Faisalabad, Pakistan.
Muhammad Akram BajwaDepartment of Gastroenterology, Civil Hospital, Hyderabad and Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.
Ali HyderDepartment of Gastroenterology, Civil Hospital, Larkana and Shaheed Mohtarma Benazir Bhutto Medical University, Larkana, Pakistan.
Muhammad Sadik MemonAsian Institute of Medical Sciences, Hyderabad, Pakistan.
Nauman HashmaniHashmanis Group of Hospitals, Karachi, Pakistan.
Mohsin Iqbal HaroonSindh Institute of Ophthalmology and Visual Sciences, Hyderabad, Pakistan.
Ambreen MuddassirDepartment of Medicine, Shaikh Zayed Medical Complex, Lahore, Pakistan.
Syed Asif Raza ZaidiDepartment of Gastroenterology, Shaikh Zayed Medical Complex, Lahore, Pakistan.
Mateen AkramDepartment of Nephrology, Shaikh Zayed Medical Complex, Lahore, Pakistan.
Muhammad HussainDepartment of Pulmonology, Services Institute of Medical Sciences, Lahore, Pakistan.
Saima Naz MohsinNHRC, Shaikh Zayed Medical Complex, Lahore, Pakistan.
Samreen BugtiDepartment of Medicine, Bolan Medical Complex Hospital, Quetta, Pakistan.
Tariq MehmoodDepartment of Medicine, SKBZ Al Nahyan Medical Complex, Quetta, Pakistan.
Abdul Lateef RodeniDepartment of Gastroenterology, SKBZ Al Nahyan Medical Complex, Quetta, Pakistan.
Shahid MukhtarDepartment of Medicine, Lahore General Hospital, Lahore, Pakistan.
Tahir RasoolAkhuwat Health Services, Lahore, Pakistan.
Adil MahmoodDepartment of Medicine, Bahawal Victoria Hospital, Bahawalpur, Pakistan.
Muhammad Noor WazirDepartment of Medicine, Hayatabad Medical Complex, Peshawar, Pakistan.
Sheraz Jamal KhanDepartment of Medicine, Hayatabad Medical Complex, Peshawar, Pakistan.
Muhammad Asghar KhanDepartment of Cardiology, Hayatabad Medical Complex, Peshawar, Pakistan.
Rahmat GhaffarDepartment of Cardiology, Hayatabad Medical Complex, Peshawar, Pakistan.ORCID http://orcid.org/0009-0008-9703-8959
Sanaullah JanPakistan Institute of Community Ophthalmology, Hayatabad Medical Complex, Peshawar, Pakistan.
Noor Ul HadiDepartment of Cardiology, Mardan Medical Complex, Mardan, Pakistan.
Roshina AnjumDepartment of Nephrology, Lahore General Hospital, Lahore, Pakistan.
Rehan AbdullahInstitute of Nuclear Medicine and Oncology, Lahore, Pakistan.
Muhammad Usman MusharrafDepartment of Medicine, Allied Hospital, Faisalabad, Pakistan.
Muhammad Tahir BashirDepartment of Oncology, Allied Hospital, Faisalabad, Pakistan.
Muhammad AliTHQ Hospital, Jaranwala, Punjab, Pakistan.
Irfan MajeedAfzal Heart Center, Allama Iqbal Memorial Teaching Hospital and Khawaja Muhammad Safdar Medical College, Sialkot, Pakistan.
Muhammad Haroon BilalDepartment of Medicine, Alama Iqbal Teaching Hospital and DG Khan Medical College, Dera Ghazi Khan, Pakistan.
Shahzad Ali KhanHealth Services Academy, Islamabad, Pakistan.
Chihiro HataAstellas Pharma, Ibaraki, Japan.ORCID http://orcid.org/0000-0002-8727-8376
Ikuyo KouAstellas Pharma, Ibaraki, Japan.ORCID http://orcid.org/0009-0005-2442-9965
Makoto AsaumiAstellas Pharma, Ibaraki, Japan.
Wataru MoriiAstellas Pharma, Ibaraki, Japan.
Katherine R SmithCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID http://orcid.org/0000-0002-0329-5938
Kousik KunduCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Kieren LythgowCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Stewart MacArthurCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID http://orcid.org/0000-0003-0201-7044
Sebastian WasilewskiCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Warsaw, Poland.
Slavé PetrovskiCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID http://orcid.org/0000-0002-1527-961X
Regeneron Genetics Center
Juan L Rodriguez-FloresWeill Cornell Medicine, New York, NY, USA.ORCID http://orcid.org/0000-0002-0394-8062
Moeen RiazRegeneron Genetics Center, Tarrytown, NY, USA.
Manav KapoorRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0001-6682-940X
Joshua D BackmanRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0001-7262-0880
Alan R ShuldinerRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0001-9921-4305
James E BradnerAmgen, Thousand Oaks, CA, USA.
Igor SplawskiYarrow Biotechnology, New York, NY, USA.
Asif RasheedCenter for Non-Communicable Diseases, Karachi, Pakistan.
John E Dominy *Biomedical Research at Novartis, Cambridge, MA, USA. john.e.dominy@outlook.com.
Allan M Gurtan *Biomedical Research at Novartis, Cambridge, MA, USA. allan.gurtan@outlook.com.ORCID http://orcid.org/0000-0003-1701-7821
Danish Saleheen *Columbia University Irving Medical Center, New York, NY, USA. ds3792@cumc.columbia.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Naturally occurring loss-of-function variants in human genes enable drug target discovery because they mimic pharmacological inhibition of proteins. However, the study of these genetic variants is constrained by their rarity. Sequencing of diverse populations, particularly those enriched in familial relatedness, has been postulated to promote discovery of rare genetic variants

Indexed as

Databases, GeneticExomeGenome, HumanFemaleGenetic VariationGenotypeHomozygoteHumansPakistanPedigreeSouth Asian People

Identifiers

PMID42310464
PMCPMC13489957

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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.