Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

Genotypes, phenotypes and whole genome sequence: Approaches from the My Life Our Future haemophilia project.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2018

Konkle B A, Johnsen J M, Wheeler M, Watson C, Skinner M, Pierce G F

Abstract excerpt

INTRODUCTION: Information 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. AIMS: The My Life Our Future (MLOF) programme was begun in 2012...

Topics

Genotype
Hemophilia A
Humans
Phenotype
Prognosis
Whole Genome Sequencing

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 29878652
DOI: 10.1111/hae.13506
PMCID: PMC6258054

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotypes, phenotypes and whole genome sequence: Approaches from the My Life Our Future haemophilia project.PMID 29878652Read ↗

Results of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States.Semantic proximity Read ↗

Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiativeSemantic proximity Read ↗

Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.Semantic proximity Read ↗

Complexity and diversity of F8 genetic variations in the 1000 genomes.Semantic proximity Read ↗

Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers.Semantic proximity Read ↗

F8/F9 variants in the population-based PedNet Registry cohort compared with locus-specific genetic databases of the European Association for Haemophilia and Allied Disorders and the Centers for Disease Control and Prevention Hemophilia A or Hemophilia B Mutation ProjectSemantic proximity Read ↗

Identification of deep intronic individual variants in patients with hemophilia A by next‐generation sequencing of the whole factor VIII geneSemantic proximity Read ↗

Principles of genetic variations and molecular diseases: applications in hemophilia A.Semantic proximity Read ↗

Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes.Semantic proximity Read ↗

The <scp>CDC</scp> Hemophilia B mutation project mutation list: a new online resourceSemantic proximity Read ↗

Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A.Semantic proximity Read ↗

Insights into the Molecular Genetic of Hemophilia A and Hemophilia B: The Relevance of Genetic Testing in Routine Clinical Practice.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.