Aug 8, 2015

Genetic analysis of hereditary hematological disorders: overview

[Rinshō ketsueki] The Japanese journal of clinical hematology
Kenichi Yoshida, Seishi Ogawa

Abstract

During the past 30 years, our knowledge of congenital/hereditary hematological disorders has dramatically improved due to the identification of their causative genes, which has also provided novel insights into disease pathobiology. More recently, the development of next-generation sequencing (NGS) technologies has provided an unprecedented opportunity to elucidate the genetic basis of rare congenital/hereditary disorders by enabling single nucleotide resolution analysis of patients' genomes. Currently, targeted sequencing, especially whole-exome sequencing (WES), is widely used for analysis of Mendelian disorders. Protein-coding exons constitute about 1.3% of the human genome and are predicted to harbor most of the disease-causing mutations. Therefore, much higher sequence coverage of exonic regions can be achieved more effectively with considerably less sequence data as compared with whole-genome sequencing. In addition to the discovery of novel causative genes, NGS have been used for diagnostic purposes in congenital hematological disorders. WES or targeted sequencing of known causative genes could identify the mutations causing diseases more accurately and effectively than traditional Sanger sequencing. Therefore, the wides...Continue Reading

  • References
  • Citations

References

  • We're still populating references for this paper, please check back later.
  • References
  • Citations

Citations

  • This paper may not have been cited yet.

Mentioned in this Paper

Exons
Genome
Genes
ExoN protein, human
Genetic Analysis
Genetic Screening Method
Congenital Disorders
Nucleic Acid Sequencing
Whole Exome Sequencing
TAPBP protein, human

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Bone Marrow Neoplasms

Bone Marrow Neoplasms are cancers that occur in the bone marrow. Discover the latest research on Bone Marrow Neoplasms here.

IGA Glomerulonephritis

IgA glomerulonephritis is a chronic form of glomerulonephritis characterized by deposits of predominantly Iimmunoglobin A in the mesangial area. Discover the latest research on IgA glomerulonephritis here.

Cryogenic Electron Microscopy

Cryogenic electron microscopy (Cryo-EM) allows the determination of biological macromolecules and their assemblies at a near-atomic resolution. Here is the latest research.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

LRRK2 & Immunity During Infection

Mutations in the LRRK2 gene are a risk-factor for developing Parkinson’s disease. However, LRRK2 has been shown to function as a central regulator of vesicular trafficking, infection, immunity, and inflammation. Here is the latest research on the role of this kinase on immunity during infection.

Antiphospholipid Syndrome

Antiphospholipid syndrome or antiphospholipid antibody syndrome (APS or APLS), is an autoimmune, hypercoagulable state caused by the presence of antibodies directed against phospholipids.

Meningococcal Myelitis

Meningococcal myelitis is characterized by inflammation and myelin damage to the meninges and spinal cord. Discover the latest research on meningococcal myelitis here.

Alzheimer's Disease: MS4A

Variants within membrane-spanning 4-domains subfamily A (MS4A) gene cluster have recently been implicated in Alzheimer's disease by recent genome-wide association studies. Here is the latest research.