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This article was published in the following journal.
Name: Neurobiology of aging
The aim of this study was to identify the molecular genetic cause of disease in posterior polymorphous corneal dystrophy (PPCD) probands of diverse origin and to assess the utility of massively parall...
DNA barcoding constitutes a supplemental genetically based characterization tool for the identification of species. Traditionally, the barcodes are generated with a length of 650 bp using standardiz...
The increasing availability of exome sequencing to the general ("healthy") population raises questions about the implications of genomic testing for individuals without suspected Mendelian diseases. L...
Monogenic diabetes is caused by mutations that reduce β-cell function. While Sanger sequencing is the standard method used to detect mutated genes. Next-generation sequencing techniques, such as whol...
Isolated gonadotropin releasing hormone (GnRH) deficiency (IGD) is a rare disease with a wide spectrum of reproductive and non- reproductive clinical characteristics. Apart from the phenotypic heterog...
The MilSeq Project is a nonrandomized, prospective pilot study of whole exome sequencing (WES) in the U.S. Air Force. The purpose of this study is to explore the implementation of WES into...
16p13.11 copy number variations are considered as predisposition factors for neurodevelopmental disorders but can be inherited from normal parents. SEESIC aims at identifying seond molecul...
Agenesis of the corpus callosum (ACC) is one of the most frequent cerebral malformations and is now diagnosed prenatally in most cases. Prenatal counseling is then challenging because of u...
The study aims to identify novel monogenic phenotypes from specific pedigrees and discover the underlying causal genetic variant using genetic sequencing (Sanger and/or Next Generation Seq...
An early diagnosis of congenital malformations and suspected genetic conditions in critically ill infants is essential to perform specific adapted care, prevention, and give proper genetic...
Techniques to determine the complete complement of sequences of all EXONS of an organism or individual.
Process by which micro-organisms adapt quickly to a preferred rapidly-metabolizable intermediate through the inhibition or repression of genes related to CATABOLISM of less preferred source(s).
Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.
That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.
Restriction of freedom of movement of individuals who have been exposed to infectious or communicable disease in order to prevent its spread; a period of detention of vessels, vehicles, or travelers coming from infected or suspected places; and detention or isolation on account of suspected contagion. It includes government regulations on the detention of animals at frontiers or ports of entrance for the prevention of infectious disease, through a period of isolation before being allowed to enter a country. (From Dorland, 28th ed & Black's Veterinary Dictionary, 17th ed)
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...