Due to the complexity of the mitochondrial system and the myriad genes involved in their function, the clinical manifestations of mitochondrial diseases are remarkably variable and heterogeneous. The laboratory and clinical methodologies used to evaluate dysfunction may vary widely, and thusly a systematic presentation of the numerous protocols that are applied to the assessment of these clinically and genetically heterogeneous disorders has proven to be essential. Mitochondrial Disorders: Biochemical and Molecular Analysis strives to fill this need with a collection of key...
Due to the complexity of the mitochondrial system and the myriad genes involved in their function, the clinical manifestations of mitochondrial dis...
In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well...
In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a ...
In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well...
In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a ...
Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes.
Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including targe...
