THROMBOSIS AND HEMOSTASIS A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

individual.Wesequenced159and137samples,respectively,fromcaseswithandwithout previously known causal variants. Among the latter group, 61 cases had clinical and laboratory phenotypes indicative of a particular molecular etiology, whereas the remainder had an apriori highly uncertain etiology. All previously detected variantswererecapitulated and, when the etiology was suspected but unknown or uncertain, a molecular diagnosis was reached in 56 of 61 and only 8 of 76 cases, respectively.ThelattercategoryhighlightstheneedforfurtherresearchintonovelcausesofBPDs.TheThromboGenomicsplatformthus providesanaffordableDNA-basedtesttodiagnosepatientssuspectedofhavingaknowninheritedBPD.(

Sri V. V. Deevi | W. Ouwehand | A. Attwood | J. Jolley | P. Reitsma | A. Rendon | C. Penkett | K. Megy | D. Bellissimo | M. Ballmaier | P. Nurden | R. Favier | J. Stephens | S. Sivapalaratnam | D. Perry | G. Baynam | L. Daugherty | D. Greene | E. Turro | D. Hampshire | B. Furie | M. Alessi | P. Bray | P. Smethurst | M. Othman | S. Schulman | J. Heemskerk | A. Mumford | M. Germeshausen | P. Gresele | R. Liesner | D. Hart | K. Peerlinck | K. Gomez | M. Mathias | A. Goodeve | W. Kahr | Y. Henskens | A. Nurden | C. Ghevaert | K. Freson | J. Guerrero | A. Nathwani | T. Bariana | C. Lentaigne | S. Westbury | S. Papadia | E. Bermejo | L. Bury | M. Cattaneo | M. Gattens | M. Hill | A. Kelly | S. Kunishima | R. Mapeta | C. Millar | M. Neerman-Arbez | M. Rondina | W. Stevenson | A. Szkotak | D. Wilcox | Fengyuan Hu | Michele P. Lambert | Myrto A. Kostadima | Minka J. A. Vries | C. Geet | Salih Tuna | Ilenia Simeoni | Deborah Whitehorn | Pawan Poudel | M. Laffan | José A. López | P. Collins | M. Bertoli | Nancy Hogg | Deborah L. French | Ron Kerr | Bin Zhang | S. Revel-Vilk | Sol Schulman | Willem H. Ouwehand | Y. Henskens | Jose A Guerrero | Andrew D Mumford | Marian Hill | Amit Nathwani | Keith Gomez | P. Collins | R. Favier | P. F. Bray | Michele P. Lambert | Bruce Furie | Johan W M Heemskerk | R. Liesner | Matthew T Rondina | Marta Bertoli | Emilse Bermejo | Marco Cattaneo | C. Ghevaert | D. Hart | José A. López | Maha Othman | David J. Perry | Pieter Reitsma | William Stevenson | David A. Wilcox | Bin Zhang

[1]  J. Flowers,et al.  Origins and geographic diversification of African rice (Oryza glaberrima) , 2018, bioRxiv.

[2]  Gert Matthijs,et al.  Guidelines for diagnostic next-generation sequencing , 2015, European Journal of Human Genetics.

[3]  D. Trégouët,et al.  Genetics of Venous Thrombosis: update in 2015 , 2015, Thrombosis and Haemostasis.

[4]  Tony Shen,et al.  Clinical applications of next generation sequencing in cancer: from panels, to exomes, to genomes , 2015, Front. Genet..

[5]  Sylvia Richardson,et al.  Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders , 2015, Genome Medicine.

[6]  Sjoert B. G. Jansen,et al.  Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders , 2015, Genome Medicine.

[7]  H. Hemker,et al.  Characterization of an autosomal dominant bleeding disorder caused by a thrombomodulin mutation. , 2015, Blood.

[8]  P. Gresele.  Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH , 2015, Journal of thrombosis and haemostasis : JTH.

[9]  R. Tait,et al.  The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology , 2014, British journal of haematology.

[10]  J. Huntington,et al.  A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin (p.Cys537Stop). , 2014, Blood.

[11]  C. Gachet,et al.  Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey , 2014, Journal of thrombosis and haemostasis : JTH.

[12]  Damian Smedley,et al.  Improved exome prioritization of disease genes through cross-species phenotype comparison , 2014, Genome research.

[13]  Eric Boerwinkle,et al.  Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project. , 2013, Blood.

[14]  Robert G. Steen,et al.  Comparison of commercially available target enrichment methods for next-generation sequencing. , 2013, Journal of biomolecular techniques : JBT.

[15]  C. A. Albers,et al.  New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome. , 2013, Current opinion in genetics & development.

[16]  R. Gibbs,et al.  Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes , 2013, Journal of thrombosis and haemostasis : JTH.

[17]  Kenny Q. Ye,et al.  An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.

[18]  Nicholas W. Wood,et al.  A robust model for read count data in exome sequencing experiments and implications for copy number variant calling , 2012, Bioinform..

[19]  M. Franchini,et al.  Past, present and future of hemophilia: a narrative review , 2012, Orphanet Journal of Rare Diseases.

[20]  C. Kratz,et al.  Faculty Opinions recommendation of Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. , 2012 .

[21]  D. Bellissimo,et al.  VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population. , 2012, Blood.

[22]  Patricia Fergelot,et al.  Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. , 2011, Blood.

[23]  P. Collins,et al.  Diagnosis and management of von Willebrand disease in the United Kingdom. , 2011, Seminars in thrombosis and hemostasis.

[24]  Sharon R Grossman,et al.  Integrating common and rare genetic variation in diverse human populations , 2010, Nature.

[25]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[26]  S. Hussain,et al.  Quebec platelet disorder. , 2010, Journal of the College of Physicians and Surgeons--Pakistan : JCPSP.

[27]  P. Stenson,et al.  The Human Gene Mutation Database: 2008 update , 2009, Genome Medicine.

[28]  Manuel A. R. Ferreira,et al.  PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.

[29]  J. Goudemand,et al.  Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD , 2006, Journal of thrombosis and haemostasis : JTH.

[30]  F. Rosen,et al.  Genotype-Proteotype Linkage in the Wiskott-Aldrich Syndrome1 , 2005, The Journal of Immunology.

[31]  D. Zwijnenburg,et al.  Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. , 2002, Nucleic acids research.

[32]  I. Balogh,et al.  Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene. , 2002, Blood.

[33]  Dekang Lin,et al.  An Information-Theoretic Definition of Similarity , 1998, ICML.

[34]  U. Francke,et al.  Isolation of a novel gene mutated in Wiskott-Aldrich syndrome , 1994, Cell.

[35]  K. Mann,et al.  Complete cDNA and derived amino acid sequence of human factor V. , 1987, Proceedings of the National Academy of Sciences of the United States of America.

[36]  E. Chen,et al.  Characterization of the human factor VIII gene , 1984, Nature.

[37]  The UK 10 K project identifies rare variants in health and disease , 2018 .

[38]  J. Kujovich.  Factor V Leiden thrombophilia , 2011, Genetics in Medicine.

[39]  Claude-Alain H. Roten,et al.  Fast and accurate short read alignment with Burrows–Wheeler transform , 2009, Bioinform..

[40]  E. Chen,et al.  Detection and sequence of mutations in the factor VIII gene of haemophiliacs          , 1985, Nature.