New study increases the number of known genetic variants associated with blood indices by factor of 10
A genome-wide association study of clinical full blood count indices measured in 173,480 people has identified independent associations with over 2,700 genetic variants
Scientists have made a significant leap towards mass producing platelets - the part of the blood that forms clots.
Large-scale production of megakaryocytes from human pluripotent stem cells by chemically defined forward programming
New paper describing a gain-of-function variant in SRC features in this week's cover of Science Translational Medicine
Hyperactive SRC yields thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
New statistical method, SimReg, for identifying the genetic causes of rare diseases published in the AJHG.
NIHR/BSU collaboration leads to new statistical method, SimReg, for identifying the genetic causes of rare diseases.
New paper on a gain-of-function variant in DIAPH1 that causes dominant macrothrombocytopenia and hearing loss
A gain-of-function variant in DIAPH1 is associated with macrothrombocytopenia and hearing loss and extends the spectrum of DIAPH1 related disease.
A multicenter validation of recombinant β3 integrin–coupled beads to detect human platelet antigen-1 alloantibodies in 498 cases of fetomaternal alloimmune thrombocytopenia
A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis
New paper on the BRIDGE bleeding and platelet disorders genome sequencing project and the human phenotype ontology
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
A comparative study of RNA-seq analysis strategies
Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice
Transcriptional diversity during lineage commitment of human blood progenitors
Willem Ouwehand has been elected a Fellow of the Academy of Medical Sciences
Flexible analysis of RNA-seq data using mixed effects models