Evidence map›Paper›PMID 42387168›Full record

ArticleNature2026

Harmonizing standards and resources for the medical genome.

Euan A Ashley, Ash A Alizadeh, Hanae Armitage, Ami S Bhatt, Yair Blumenfeld, Andrew Carroll, R Martin Chavez, Petros Giannikopoulos, Megan E Grove, Meghan C Halley and 18 more

Abstract read
PubMed Full text at PMC Publisher
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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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

28 authors.

Euan A AshleyStanford University, Stanford, CA, USA. euan@stanford.edu.ORCID http://orcid.org/0000-0001-9418-9577
Ash A AlizadehStanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-5153-5625
Hanae ArmitageStanford University, Stanford, CA, USA.
Ami S BhattStanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0001-8099-2975
Yair BlumenfeldStanford University, Stanford, CA, USA.
Andrew CarrollGoogle, Mountain View, CA, USA.ORCID http://orcid.org/0000-0002-4824-6689
R Martin ChavezSixth Street, San Francisco, CA, USA.
Petros GiannikopoulosInnovative Genomics Institute, Berkeley, CA, USA.ORCID http://orcid.org/0000-0003-4342-1756
Megan E GroveStanford University, Stanford, CA, USA.
Meghan C HalleyStanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-5031-9840
Kiran KhushStanford University, Stanford, CA, USA.
Niall J LennonBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Samantha MaraghNational Institute of Standards and Technology, Gaithersburg, MD, USA.
Alexander MarsonGladstone-UCSF Institutes, San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-2734-5776
Benedict PatenUniversity of California, Santa Cruz, Santa Cruz, CA, USA.ORCID http://orcid.org/0000-0001-8863-3539
Adam M PhillippyNational Human Genome Research Institute, Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-2983-8934
Matthew H PorteusStanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-3850-4648
Heidi L RehmBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-6025-0015
Bradley R RingeisenUniversity of California, Berkeley, Berkeley, CA, USA.
Julia SalzmanStanford University, Stanford, CA, USA.
Valerie A SchneiderNational Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-3442-1888
Fritz J SedlazeckBaylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0001-6040-2691
Lars M SteinmetzStanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-3962-2865
Fyodor D UrnovInnovative Genomics Institute, Berkeley, CA, USA.ORCID http://orcid.org/0000-0001-7542-4084
Stacia K WymanUniversity of California, Berkeley, Berkeley, CA, USA.ORCID http://orcid.org/0000-0002-8937-8397
Justin M ZookNational Institute of Standards and Technology, Gaithersburg, MD, USA.ORCID http://orcid.org/0000-0003-2309-8402
Lloyd B MinorStanford University, Stanford, CA, USA.
Jennifer A DoudnaInnovative Genomics Institute, Berkeley, CA, USA.ORCID http://orcid.org/0000-0001-9161-999X

Funding

Single-molecule sequence assembly and analysisZIAHG200398 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI PHILLIPPY, ADAM · 2016 to 2025
$15.9M
Intramural NIH HHS Z99 LM999999Intramural NIH HHS ZIA HG200398
6 · The paper itself

Abstract

Realizing the promise of precision medicine will require the highest standards of accuracy in genome sequencing and analysis. Here we describe challenges and opportunities for the field through the lens of genome data quality. We present recommendations in the context of specific areas of application for genomic sequencing in which isolated standards have arisen: germline sequencing, tumour sequencing, cell-free DNA testing, and sequencing for quality control in genetic therapy. Despite these distinct clinical contexts, technical challenges are often similar; for example, accurately detecting low-frequency genetic variants in tumour sequencing or gene-edited cells. We call for increased synchronization among these communities to establish new medical genome standards that promote confidence in genomic diagnostics and genetic therapies in a time of rapid technology-driven change. We suggest practical approaches for implementing these genome standards across contexts, and identify key areas that require further development.

Indexed as

Genome, HumanGenomicsPrecision MedicineHumansNeoplasmsQuality ControlSequence Analysis, DNA

Identifiers

PMID42387168
PMCPMC13506173

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.