DNA sequencing data for "Stable clonal contribution of lineage-restricted stem cells to human hematopoiesis"
https://doi.org/10.48723/313d-dd68
This dataset contains three types of DNA sequencing data.
-Error-corrected DNA capture sequencing (ECTS)
-Bulk whole-exome sequencing (WES)
-Single-colony whole-genome sequencing (WGS)
All sequencing was performed on an Illumina NovaSeq 6000 at the National Genomics Infrastructure in
Stockholm, using paired-end sequencing mode.
ECTS
Bone marrow mononuclear cells isolated from all 93 healthy donors were subjected to ECTS for identification of somatic mutations targeted to 23 genes encompassing the most recurrently mutated genes reported in clonal hematopoiesis.
WES
BM MNC DNA isolated from the first visit from 20 healthy donors above 71 years was subjected bulk WES. Paired buccal swab DNA was used for normal controls.
Single colony WGS
DNA extracted from 333 genotyped single colonies and 10 control buccal swabs from 10 donors was subjected to WGS.
The dataset consists of three folders:
scWGS contains 343 files in CRAM format, totaling approximately 16.3 TiB (17.9 TB).
WES contains 40 files in CRAM format, totaling approximately 650 GiB (710 GB).
ECTS contains 117 files in CRAM format, totaling approximately 18 GiB (20 GB).
Documentation files
Documentation files
Citation and access
Citation and access
Data access level:
Creator/Principal investigator(s):
Research principal:
Data contains personal data:
Yes
Type of personal data:
Genetic data (Germline single nucleotide polymorphisms and somatic mutations)
Code key exists:
Yes
Sensitive personal data:
Yes
Citation:
Language:
Method and outcome
Method and outcome
Population:
Healthy individuals with rigorous inclusion criteria ensuring the absence of current or previous blood disorders or cancer and without ongoing treatment with immunosuppressive or other drugs likely to affect hematopoiesis.
Time method:
Study design:
- Experimental study
Sampling procedure:
Time period(s) investigated:
Number of individuals/objects:
93
Data format/data structure:
Samples/material - Collected from scientific collection/biobank
Samples/material - Collected from scientific collection/biobank
Name:
Karolinska Institutet MDS Biobank
Geographic coverage
Geographic coverage
Geographic location:
Administrative information
Administrative information
Responsible department/unit:
Department of Medicine, Huddinge [H7]
Ethical Review
Ethical Review
Reviewer:
- Stockholm Ethical Review Board
Registration number:
2018/901-31
Ethical review information:
Studies of hereditary and acquired disease mechanisms in myelodysplastic and myelodysplastic / myeloproliferative syndrome, MDS-related AML and adjacent hematological conditions with a need for improved differential diagnosis.
The last updated version is 2025-01131-02 (Stockholm).
Funding
Funding
Funding agency:
- Knut and Alice Wallenberg Foundation
Opens a new window at ror.org.
ROR
Award number:
KAW 2016.0105, 2015.0195
Funding agency:
- Tobias Foundation
Award number:
4-1122/2014
Funding agency:
- Torsten Söderberg Foundation
Opens a new window at ror.org.
ROR
Funding agency:
- Center for Innovative Medicine (CIMED) at Karolinska Institutet
Opens a new window at ror.org.
ROR
Award number:
613/06
Funding agency:
- Swedish Research Council
Opens a new window at ror.org.
ROR
Award number:
538-2013-8995, 2015-03561
Funding agency:
- Medical Research Council
Opens a new window at ror.org.
ROR
Award number:
MC_UU_12009/5
Funding agency:
- Swedish Cancer Society
Opens a new window at ror.org.
ROR
Award number:
22 2178 Pj
Funding agency:
- Radium Hemmets Research Funds
Opens a new window at ror.org.
ROR
Award number:
224132, 244282
Funding agency:
- Dr Åke Olsson Foundation
Award number:
2021-00087
Topic and keywords
Topic and keywords
Swedish Standard Classification of Research Subjects 2025:
Publications
Publications
Citation:
Yoshizato, T., Nilsson, C., Grasso, F., Högstrand, K., Mazzi, S., Winroth, A., Lehander, M., Barbosa, I., Waldin, G., Mortera-Blanco, T., Yoshizato, T., Nilsson, C., Grasso, F., Högstrand, K., Mazzi, S., Winroth, A., Lehander, M., Barbosa, I., Waldin, G., & Mortera-Blanco, T. (2025). Stable clonal contribution of lineage-restricted stem cells to human hematopoiesis. In NATURE GENETICS. https://doi.org/10.1038/s41588-025-02405-w
