ReviewHaemophilia : the official journal of the World Federation of Hemophilia2018
Genotypes, phenotypes and whole genome sequence: Approaches from the My Life Our Future haemophilia project.
Review in Haemophilia : the official journal of the World Federation of Hemophilia, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 43 citations in OpenAlex.
- Integrative modeling to improve bleeding risk prediction in adult female hemophilia A carriers.Journal of thrombosis and haemostasis : JTH · 2026Observational
- A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De NovoInternational journal of molecular sciences · 2025Article
- A scan of pleiotropic immune mediated disease genes identifies novel determinants of baseline FVIII inhibitor status in hemophilia A.Genes and immunity · 2025Article
- Hemophilia and Other Congenital Coagulopathies in Women.Journal of hematology · 2024Review
- Genome editing of patient-derived iPSCs identifies a deep intronic variant causing aberrant splicing in hemophilia A.Blood advances · 2023Article
- Review
- Genome-Wide Association Study and Gene-Based Analysis of Participants With Hemophilia A and Inhibitors in the My Life, Our Future Research Repository.Frontiers in medicine · 2022Article
- Monitoring of different factor VIII replacement products using a factor VIII one-stage clotting assay on cobas t 511/711 analysers.Haemophilia : the official journal of the World Federation of Hemophilia · 2021Article
- Comparison of DNA Methylation Profiles of Hemostatic Genes between Liver Tissue and Peripheral Blood within Individuals.Thrombosis and haemostasis · 2021Article
- Hsa-miR-5581-3p and Hsa-miR-542-3p Target theMediterranean journal of hematology and infectious diseases · 2021Article
- HLA Variants and Inhibitor Development in Hemophilia A: A Retrospective Case-Controlled Study Using the ATHNdataset.Frontiers in medicine · 2021Article
- Intronic regions of theHeliyon · 2020Article
- The odds and implications of coinheritance of hemophilia A and B.Research and practice in thrombosis and haemostasis · 2020Article
- An international registry of patients with plasminogen deficiency (HISTORY).Haematologica · 2020Review
- Hemophilia trials in the twenty-first century: Defining patient important outcomes.Research and practice in thrombosis and haemostasis · 2019Review
- Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
introductionInformation from the genes encoding factor VIII (F8) and IX (F9) is used in reproductive planning and to inform inhibitor formation, bleeding severity and response to therapies. Advances in technology and our understanding of the human genome now allows more comprehensive methods to study genomic variation and its impact on haemophilia.
aimsThe My Life Our Future (MLOF) programme was begun in 2012 to provide genetic analysis and to expand research in haemophilia through a research repository.
methodsMLOF enrolled haemophilia A and B patients followed at haemophilia treatment centers in the U.S., including, since 2015, known and potential genetic carriers. Initial F8 and F9 DNA analysis was performed utilizing a next generation sequencing approach which allowed simultaneous detection of F8 inversions and other variants. Candidate variants were confirmed using a second method and multiplex ligation-dependent probe amplification was used to detect structural variants.
resultsThe initial phase of MLOF completed enrollment in December 2017 with 11,356 patients, genetic carriers, and potential carriers enrolled. In the 9453 subjects in whom analysis is complete, 687 unique previously unreported variants were found. Simultaneous sequencing of the F8 and F9 genes resulted in identification of non-deleterious variants previously reported as causative in haemophilia. DNA from 5141 MLOF subjects has undergone whole genome sequencing through the NHLBI TOPMed programme of the U.S. NIH.
conclusionMLOF has provided genetic information for patients and their families to help inform clinical care and has established a repository of data and biospecimens to further advance haemophilia research.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.