Evidence map›Paper›PMID 41220526›Full record

ReviewJMA journal2025

Advancements in Whole-Genome Sequencing Protocols: A Decade of In-House Operations and Quality Controls at the Tohoku Medical Megabank.

Fumiki Katsuoka, Junko Kawashima, Shu Tadaka, Akihito Otsuki, Yasunobu Okamura, Takafumi Suzuki, Takanori Hidaka, Kazuki Kumada, Tohoku Medical Megabank Project Study Group, Fuji Nagami and 5 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in JMA journal, 2025. 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

15 authors.

Fumiki KatsuokaDepartment of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Junko KawashimaDepartment of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Shu TadakaDepartment of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Akihito OtsukiDepartment of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Yasunobu OkamuraDepartment of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Takafumi SuzukiDepartment of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Takanori HidakaDepartment of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Kazuki KumadaDepartment of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Tohoku Medical Megabank Project Study Group
Fuji NagamiDepartment of Public Relations and Planning, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Atsushi HozawaDepartment of Preventive Medicine and Epidemiology, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Shinichi KuriyamaDepartment of Preventive Medicine and Epidemiology, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Nobuo FuseDepartment of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Kengo KinoshitaDepartment of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Masayuki YamamotoDepartment of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Population-scale human whole-genome sequencing (WGS) projects are ongoing worldwide. At a time when such large-scale genome projects were uncommon, the Tohoku Medical Megabank Project initiated genome analysis of the general population in Japan, aiming to build a foundation for personalized medicine and prevention. Recently, we have completed the WGS of 100,000 participants, and research utilizing this genomic foundation is in progress. Early in the project, we realized that standard protocols were not always suitable for large-scale sequencing, necessitating the development of optimized operations and quality control methods. To accommodate various sequencing platforms and adapt protocols to the scale of analysis, we have continuously refined our methods. As multiplex sequencing analysis became standard, we aimed to ensure uniform data quantity across samples. With the advent of large-scale analyses, streamlining operations has also been a critical focus. In this paper, we share the details of our WGS operations and quality control methods developed over a decade, highlighting the unique methods and know-how we have established.

Indexed as

genome cohortpopulation genomicswhole-genome sequencing

Identifiers

PMID41220526
PMCPMC12598290

What OpenQuestion holds

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LicenceCC BY
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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.