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. 2022 Jan;36(1):279-282.
doi: 10.1038/s41375-021-01331-0. Epub 2021 Jun 28.

Exploring the genetic and epigenetic origins of juvenile myelomonocytic leukemia using newborn screening samples

Astrid Behnert #  1 , Julia Meyer #  1 , Jahan-Yar Parsa  2 , Aaron Hechmer  3 , Mignon L Loh  1   4 , Adam Olshen  3   4 , Adam J de Smith  5 , Elliot Stieglitz  6   7
Affiliations

Exploring the genetic and epigenetic origins of juvenile myelomonocytic leukemia using newborn screening samples

Astrid Behnert et al. Leukemia. 2022 Jan.
No abstract available

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Conflict of interest statement

Jahan-Yar Parsa is an employee of Tecan Genomics, Inc.

Figures

Fig. 1
Fig. 1. Newborn blood spot cards display a low DNA methylation signature.
A JMML NBS or control NBS samples profiled by MethylSeq classified according to the international JMML methylation consensus signature [12]. B Methylation status at diagnosis of patients (n = 16) reported in this study. Panel A and B Heatmaps show the beta values of 1386 CpG loci used for methylation classification.
Fig. 2
Fig. 2. Genetic mutations precede changes in DNA methylation.
Genetic and methylation profiling of paired NBS and diagnostic samples from JMML patients are displayed. The star indicates the NBS sample of the pair.
See this image and copyright information in PMC

References

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