Initial sequencing and analysis of the human genome

Eric S. Lander; Lauren Linton; Bruce W. Birren; Chad Nusbaum; Michael C. Zody

doi:10.1038/35057062

Initial sequencing and analysis of the human genome

Eric S. Lander, Lauren Linton, Bruce W. Birren, Chad Nusbaum, Michael C. Zody, Jennifer Baldwin, Keri Devon, Ken Dewar, Michael P. Doyle, William W. Fitzhugh, Roel Funke, Diane Gage, Katrina L. Harris, Andrew Heaford, John G. Howland...

Nature Portfolio (2001) • Volume 409, Issue 6822, Pages 860-921

Method-ToolMethod-ToolPDF AvailableGrade Eligible

Overall Assessment

Exceptional Methodological Quality

Assessment created by PaperScores Medical AI v0 on Dec 14, 2025

A

94/100

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Quality Dimensions

Bias & Integrity

COI handling, outcome switching, selective reporting

A+96

Methods Rigour

Protocol clarity, sampling, controls

A92

External Validity

Generalisability, setting, population

A90

Transparency & Reproducibility

Data/code/materials availability, preregistration

A+98

Significance & Novelty

Contribution vs prior art; context if known

A+100

Statistical Validity

Models, assumptions, multiplicity, CI priority

A-88

Integrity & Transparency

Integrity checks

P-hacking risk?

?

None suspected

Signs of selective hypothesis testing or analysis choices that could inflate false positive rates.

Outcome switching?

?

None suspected

Evidence that primary outcomes were changed during or after the study, potentially distorting results.

Conflict of interest?

?

None suspected

Authors have financial or other relationships that could bias research findings.

Data integrity issues?

?

None suspected

Concerns about the accuracy, completeness, or authenticity of the reported data.

Open science signals

Research data

?

Open access

Raw data used in the analyses is publicly available or accessible upon request.

Analysis code

?

Open access

Code or scripts used to analyze the data are shared for reproducibility.

Study materials

?

Upon request

Protocols, questionnaires, and other materials are publicly available.

Premise

Primary Research Question

How to produce and evaluate a public draft sequence of the human genome and what initial insights arise?

Hypothesis is Falsifiable

—Not specified

Descriptive methods/analysis, not hypothesis testing.

PICO Framework

Population—Not specified

No human subjects; DNA libraries.

Intervention—Not specified

Sequencing/assembly pipeline, not a clinical intervention.

Comparison—Not specified

No comparator; methodological contrasts with WGS discussed.

Outcome—Not specified

Outcomes are coverage, accuracy, contiguity, annotations.

Literature Positioning

Literature Review Balanced

Well covered

Historical context and prior mapping/sequencing work summarised.

Evidence: p. 861–863, Fig. 1

Research Gap Clearly Stated

Well covered

Need for a public draft human genome sequence and methods.

Evidence: p. 863–864

Stated Contribution Clear

Well covered

Produced public draft sequence (~90% coverage) and initial analyses.

Evidence: p. 860, 864–867

Study Provenance

Peer reviewed venueMixed funding disclosedCOI not reportedAffiliations listed

Authors & Affiliations

International Human Genome Sequencing Consortium: multiple centres in US/UK/Japan/France/Germany/China.

Funding Statement

NHGRI/NIH, DOE, Wellcome Trust, MRC, EU, Japanese agencies, German BMBF, Chinese CAS/MOST/NSFC, others (p. 920).

Conflicts of Interest

Not reported

Peer Review

✓Peer-reviewed Nature article (2001).

Evidence: p. 860–861; journal front matter

Methodological Assessment

All design modules are marked as not applicable. Use the accordion below to review their details.

Modules without applicable checklist items (9)

These designs were fully marked as not applicable but remain available for reference.

Abstract

The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.

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Study Overview

Study Design

Method Tool

Primary classification used to evaluate this research.

Population

Human genomic DNA sampled via BAC/PAC libraries; in vitro sequencing and computational assembly.

Brief summary of who or what was studied.

Pre-registration

Not registered

Indicates whether the protocol or trial was registered before data collection.

Reviewer Notes

Map-based hierarchical shotgun sequencing with assembly/quality metrics; descriptive analyses of the draft genome.

Publication Details

DOI

10.1038/35057062

Published

February 1, 2001

Citations

24191 citations

FWCI

599.78

External Resources

DOI Link OpenAlex

Disclaimer: This assessment is generated by AI and should not be the sole basis for clinical or research decisions. Always review the original paper and consult with domain experts.

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