News

Read more at: New study increases the number of known genetic variants associated with blood indices by factor of 10

New study increases the number of known genetic variants associated with blood indices by factor of 10

20 November 2016

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

Read more at: BBC: Huge leap to mass produced platelets

BBC: Huge leap to mass produced platelets

19 April 2016

Scientists have made a significant leap towards mass producing platelets - the part of the blood that forms clots.

Read more at: New paper on artificial production of platelet precursor cells

New paper on artificial production of platelet precursor cells

19 April 2016

Large-scale production of megakaryocytes from human pluripotent stem cells by chemically defined forward programming

Read more at: New paper describing a gain-of-function variant in SRC features in this week's cover of Science Translational Medicine

New paper describing a gain-of-function variant in SRC features in this week's cover of Science Translational Medicine

2 March 2016

Hyperactive SRC yields thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

Read more at: New statistical method, SimReg, for identifying the genetic causes of rare diseases published in the AJHG.

New statistical method, SimReg, for identifying the genetic causes of rare diseases published in the AJHG.

25 February 2016

NIHR/BSU collaboration leads to new statistical method, SimReg, for identifying the genetic causes of rare diseases.

Read more at: New paper on a gain-of-function variant in DIAPH1 that causes dominant macrothrombocytopenia and hearing loss

New paper on a gain-of-function variant in DIAPH1 that causes dominant macrothrombocytopenia and hearing loss

25 February 2016

A gain-of-function variant in DIAPH1 is associated with macrothrombocytopenia and hearing loss and extends the spectrum of DIAPH1 related disease.

Read more at: New paper on detection of fetomaternal alloimmune thrombocytopenia

New paper on detection of fetomaternal alloimmune thrombocytopenia

16 July 2015

A multicenter validation of recombinant β3 integrin–coupled beads to detect human platelet antigen-1 alloantibodies in 498 cases of fetomaternal alloimmune thrombocytopenia

Read more at: New paper linking variants in MCF2L with premature cardiovascular disease

New paper linking variants in MCF2L with premature cardiovascular disease

23 April 2015

A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis

Read more at: New paper on the BRIDGE bleeding and platelet disorders genome sequencing project and the human phenotype ontology

New paper on the BRIDGE bleeding and platelet disorders genome sequencing project and the human phenotype ontology

23 April 2015

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.

Read more at: New paper on RNA-seq analysis strategies

New paper on RNA-seq analysis strategies

5 April 2015

A comparative study of RNA-seq analysis strategies