Clinical metagenomic sequencingClinical metagenomic next-generation sequencing (mNGS) is the comprehensive analysis of microbial and host genetic material (DNA or RNA) in clinical samples from patients by next-generation sequencing. It uses the techniques of metagenomics to identify and characterize the genome of bacteria, fungi, parasites, and viruses without the need for a prior knowledge of a specific pathogen directly from clinical specimens.
Retina bipolar cellAs a part of the retina, bipolar cells exist between photoreceptors (rod cells and cone cells) and ganglion cells. They act, directly or indirectly, to transmit signals from the photoreceptors to the ganglion cells. Bipolar cells are so-named as they have a central body from which two sets of processes arise. They can synapse with either rods or cones (rod/cone mixed input BCs have been found in teleost fish but not mammals), and they also accept synapses from horizontal cells.
Cell typeA cell type is a classification used to identify cells that share morphological or phenotypical features. A multicellular organism may contain cells of a number of widely differing and specialized cell types, such as muscle cells and skin cells, that differ both in appearance and function yet have identical genomic sequences. Cells may have the same genotype, but belong to different cell types due to the differential regulation of the genes they contain.
Taux de mutationEn génétique le taux de mutation désigne la quantité de changement de l'information génétique au cours du temps. réplication de l'ADN, le complexe d'enzymes chargé de sa copie, l'ADN polymérase, laisse passer un certain nombre d'erreurs. À une grande échelle de temps, l'information génétique évolue en fonction de ces changements. Notamment, l'information codant l'ADN polymérase elle-même évolue en conséquence, ce qui rend ce taux de mutation variable entre les espèces et sur plusieurs centaines de milliers d'années.
Sanger sequencingSanger sequencing is a method of DNA sequencing that involves electrophoresis and is based on the random incorporation of chain-terminating dideoxynucleotides by DNA polymerase during in vitro DNA replication. After first being developed by Frederick Sanger and colleagues in 1977, it became the most widely used sequencing method for approximately 40 years. It was first commercialized by Applied Biosystems in 1986. More recently, higher volume Sanger sequencing has been replaced by next generation sequencing methods, especially for large-scale, automated genome analyses.
Frameshift mutationA frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original. The earlier in the sequence the deletion or insertion occurs, the more altered the protein.
Exome sequencingExome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons—humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology.
Male infertilityMale infertility refers to a sexually mature male's inability to impregnate a fertile female. In humans it accounts for 40–50% of infertility. It affects approximately 7% of all men. Male infertility is commonly due to deficiencies in the semen, and semen quality is used as a surrogate measure of male fecundity. More recently, advance sperm analyses that examine intracellular sperm components are being developed.
Fertility testingFertility testing is the process by which fertility is assessed, both generally and also to find the "fertile window" in the menstrual cycle. General health affects fertility, and STI testing is an important related field. Healthy women are fertile from puberty until menopause, although fertility is typically much reduced towards the extremes of this period. The onset of puberty is typically identified by menarche and the presence of secondary sexual characteristics such as breast development, the appearance of pubic hair and changes to body fat distribution.
Somatic mutationA somatic mutation is a change in the DNA sequence of a somatic cell of a multicellular organism with dedicated reproductive cells; that is, any mutation that occurs in a cell other than a gamete, germ cell, or gametocyte. Unlike germline mutations, which can be passed on to the descendants of an organism, somatic mutations are not usually transmitted to descendants. This distinction is blurred in plants, which lack a dedicated germline, and in those animals that can reproduce asexually through mechanisms such as budding, as in members of the cnidarian genus Hydra.
FertilitéPour le sens commun, la fertilité désigne à la fin du la capacité des personnes, des animaux ou des plantes à produire une descendance viable et abondante. Le terme était généralement appliqué aux femmes, ou aux femelles des animaux, mais s'appliquent de plus en plus aux sujets mâles, au fur et à mesure des progrès dans la vision des mécanismes de la reproduction et de la meilleure connaissance du rôle de l'homme ou du mâle. Un couple dit fertile est un couple qui a commencé une grossesse après moins d'un an de rapports sexuels non protégés pendant la période fertile.
MutationnismeLe Mutationnisme est une théorie de biologie évolutive, qui existait avant les travaux de Charles Darwin, et survit pendant plusieurs décennies comme alternative à sa théorie de l'évolution, dans une phase de l'histoire de la biologie connue sous le nom d'éclipse du darwinisme. Le mutationnisme prévoit que l'évolution n'est pas continue, elle se fait par sauts importants, qui peuvent, en une seule génération, donner naissance à de nouveaux traits ou même à de nouvelles espèces.
