Reconstructing the Lineage Histories and Differentiation Trajectories of Individual Cancer Cells in Myeloproliferative Neoplasms

Pan-cancer analysis of whole genomes

(2020)   NATURE

The repertoire of mutational signatures in human cancer

(2020) Ludmil B. Alexandrov et al.   NATURE

Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets

(2020) Bethan Psaila et al.   MOLECULAR CELL

The evolutionary dynamics and fitness landscape of clonal hematopoiesis

(2020) Caroline J. Watson et al.   SCIENCE

Prevalence and phenotypes of JAK2 V617F and calreticulin mutations in a Danish general population

(2019) Sabrina Cordua et al.   BLOOD

Increased SLAMF7high monocytes in myelofibrosis patients harboring JAK2V617F provide a therapeutic target of elotuzumab

(2019) Takaaki Maekawa et al.   BLOOD

Comprehensive Integration of Single-Cell Data

(2019) Tim Stuart et al.   CELL

Somatic mutations and cell identity linked by Genotyping of Transcriptomes

(2019) Anna S. Nam et al.   NATURE

Platelets in myeloproliferative neoplasms have a distinct transcript signature in the presence of marrow fibrosis

(2019) Belinda B. Guo et al.   BRITISH JOURNAL OF HAEMATOLOGY

Life History of Normal Human Lymphocytes Revealed By Somatic Mutations

(2019) Heather E Machado et al.   BLOOD

SvABA: genome-wide detection of structural variants and indels by local assembly

(2018) Jeremiah A. Wala et al.   GENOME RESEARCH

Increased neutrophil extracellular trap formation promotes thrombosis in myeloproliferative neoplasms

(2018) Ofir Wolach et al.   Science Translational Medicine

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

(2018) James H. R. Farmery et al.   Scientific Reports

MutationalPatterns: comprehensive genome-wide analysis of mutational processes

(2018) Francis Blokzijl et al.   Genome Medicine

Population snapshots predict early haematopoietic and erythroid hierarchies

(2018) Betsabeh Khoramian Tusi et al.   NATURE

Population dynamics of normal human blood inferred from somatic mutations

(2018) Henry Lee-Six et al.   NATURE

Classification and Personalized Prognosis in Myeloproliferative Neoplasms

(2018) Jacob Grinfeld et al.   NEW ENGLAND JOURNAL OF MEDICINE

Somatic Mutations Reveal Lineage Relationships and Age-Related Mutagenesis in Human Hematopoiesis

(2018) Fernando G. Osorio et al.   Cell Reports

Genome-wide profiling of heritable and de novo STR variations

(2017) Thomas Willems et al.   NATURE METHODS

Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease

(2017) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms

(2016) D. A. Hinds et al.   BLOOD

Validation and Implementation of a Custom Next-Generation Sequencing Clinical Assay for Hematologic Malignancies

(2016) Michael J. Kluk et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

phylodyn: an R package for phylodynamic simulation and inference

(2016) Michael D. Karcher et al.   Molecular Ecology Resources

Quantifying and Mitigating the Effect of Preferential Sampling on Phylodynamic Inference

(2016) Michael D. Karcher et al.   PLoS Computational Biology

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

Clock-like mutational processes in human somatic cells

(2015) Ludmil B Alexandrov et al.   NATURE GENETICS

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

Integrated genomic analysis illustrates the central role of JAK-STAT pathway activation in myeloproliferative neoplasm pathogenesis

(2014) R. Rampal et al.   BLOOD

Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms

(2014) P. Lundberg et al.   BLOOD

Age-related mutations associated with clonal hematopoietic expansion and malignancies

(2014) Mingchao Xie et al.   NATURE MEDICINE

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

LUMPY: a probabilistic framework for structural variant discovery

(2014) Ryan M Layer et al.   GENOME BIOLOGY

DELLY: structural variant discovery by integrated paired-end and split-read analysis

(2012) T. Rausch et al.   BIOINFORMATICS

JAK2V617F activates Lu/BCAM-mediated red cell adhesion in polycythemia vera through an EpoR-independent Rap1/Akt pathway

(2012) M. De Grandis et al.   BLOOD

The replication rate of human hematopoietic stem cells in vivo

(2011) S. N. Catlin et al.   BLOOD

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Distinct Clinical Phenotypes Associated with JAK2V617F Reflect Differential STAT1 Signaling

(2010) Edwin Chen et al.   CANCER CELL

Clonal diversity in the myeloproliferative neoplasms: independent origins of genetically distinct clones

(2009) Philip A. Beer et al.   BRITISH JOURNAL OF HAEMATOLOGY

Substitution of Pseudokinase Domain Residue Val-617 by Large Non-polar Amino Acids Causes Activation of JAK2

(2008) Alexandra Dusa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY