Comprehensive whole-genome sequencing of an early-stage primary myelofibrosis patient defines low mutational burden and non-recurrent candidate genes.

doi:10.3324/haematol.2013.092379

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Article

Comprehensive whole-genome sequencing of an early-stage primary myelofibrosis patient defines low mutational burden and non-recurrent candidate genes.

Haematologica - 1 Nov 2013

Merker Jason D, Roskin Krishna M, Ng Dana, Pan Cuiping, Fisk Dianna G, King Jasmine J, Hoh Ramona, Stadler Michael, Okumoto Lawrence M, Abidi Parveen, Hewitt Rhonda, Jones Carol D, Gojenola Linda, Clark Michael J, Zhang Bing, Cherry Athena M, George Tracy I, Snyder Michael, Boyd Scott D, Zehnder James L, Fire Andrew Z, Gotlib Jason

Abstract excerpt

In order to identify novel somatic mutations associated with classic BCR/ABL1-negative myeloproliferative neoplasms, we performed high-coverage genome sequencing of DNA from peripheral blood granulocytes and cultured skin fibroblasts from a patient with MPL W515K-positive primary myelofibrosis. The primary myelofibrosis genome had a low somatic mutation rate, consistent with that observed in similar hematopoietic...

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Identifiers

PMID: 23872309
DOI: 10.3324/haematol.2013.092379
PMCID: PMC3815168

Genes

ABL1
BCR
BRD2
CARD6
MFRP
MPL
SOX30

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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