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Topic Review
Gene annotation for 'Flaviviridae' genomes
Responding to the ongoing and severe public health threat of viruses of the family Flaviviridae, including dengue, hepatitis C, West Nile, yellow fever, and Zika, demands a greater understanding of how these viruses emerge and spread. Updated phylogenies are central to this understanding. Most cladograms of Flaviviridae focus on specific lineages and ignore outgroups, thus hampering the efficacy of the analysis to test ingroup monophyly and relationships. This is due to the lack of annotated Flaviviridae genomes, which has gene content variation among genera. This variation makes analysis without partitioning difficult. Therefore, we developed an annotation pipeline for the genera of Flaviviridae (Flavirirus, Hepacivirus, Pegivirus, and Pestivirus), named “Fast Loci Annotation of Viruses” (FLAVi: flavi-web.com), that combines ab initio and homology-based strategies. FLAVi recovered 100% of the genes in Flavivirus and Hepacivirus genomes. In Pegivirus and Pestivirus, annotation efficiency was 100% except for one partition each. There were no false positives. The combined phylogenetic analysis of multiple genes made possible by annotation has clear impacts over the tree topology compared to phylogenies that we inferred without outgroups or data partitioning. The final tree is largely congruent with previous hypotheses and adds evidence supporting the close phylogenetic relationship between dengue and Zika.
  • 1.2K
  • 27 Oct 2020
Topic Review
GEFS+
Genetic epilepsy with febrile seizures plus (GEFS+) is a spectrum of seizure disorders of varying severity.
  • 1.2K
  • 23 Dec 2020
Topic Review
Tubular Aggregate Myopathy
Tubular aggregate myopathy is a disorder that primarily affects the skeletal muscles, which are muscles the body uses for movement.
  • 1.2K
  • 23 Dec 2020
Topic Review
Null Allele Problem in Pedigree Reconstruction in Viticulture
Null alleles are alleles that are recessive to codominant markers without any effect on the phenotype. In simple sequence repeats (SSR) assays, there are several reasons for the lack of amplification at a locus: the primer does not bind well, longer fragments do not amplify due to imperfections in the polymerase chain reaction (PCR), or the amount of DNA in the sample is insufficient. In microsatellite studies, null alleles are mostly used in pedigree analysis and population genetics calculations such as diversity estimation. Null alleles in pedigree analysis can cause rejection of the true parent; if not recognized while in population genetics they distort the results in underestimating diversity. 
  • 1.2K
  • 24 Aug 2022
Topic Review
CLN3 Gene
CLN3, battenin
  • 1.2K
  • 24 Dec 2020
Topic Review
PEX1 Gene
peroxisomal biogenesis factor 1
  • 1.2K
  • 25 Dec 2020
Topic Review
VDR Gene
Vitamin D receptor
  • 1.2K
  • 04 Jan 2021
Topic Review
Proopiomelanocortin Deficiency
Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin.
  • 1.2K
  • 24 Dec 2020
Topic Review
Obsessive-Compulsive Disorder
Obsessive-compulsive disorder (OCD) is a mental health condition characterized by features called obsessions and compulsions. Obsessions are intrusive thoughts, mental images, or urges to perform specific actions. While the particular obsessions vary widely, they often include fear of illness or contamination; a desire for symmetry or getting things "just right;" or intrusive thoughts involving religion, sex, or aggression. Compulsions consist of the repetitive performance of certain actions, such as checking or verifying, washing, counting, arranging, acting out specific routines, or seeking assurance. These behaviors are performed to relieve anxiety, rather than to seek pleasure as in other compulsive behaviors like gambling, eating, or sex.
  • 1.2K
  • 04 Jan 2021
Topic Review
17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a male sex hormone (androgen) called testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.
  • 1.2K
  • 23 Dec 2020
Topic Review
Gordon Holmes Syndrome
Gordon Holmes syndrome is a rare condition characterized by reproductive and neurological problems.
  • 1.2K
  • 23 Dec 2020
Topic Review
PPM-X Syndrome
PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability with impaired language development.
  • 1.2K
  • 24 Dec 2020
Topic Review
ADA Gene
Adenosine deaminase
  • 1.2K
  • 04 Jan 2021
Topic Review
Medically Assisted Reproduction
Since the birth of Louise Joy Brown, the first baby conceived via in vitro fertilization, more than 9 million children have been born worldwide using assisted reproductive technologies (ART). In vivo fertilization takes place in the maternal oviduct, where the unique physiological conditions guarantee the healthy development of the embryo. During early embryogenesis, a major wave of epigenetic reprogramming takes place that is crucial for the correct development of the embryo.
  • 1.2K
  • 27 Apr 2022
Topic Review
Bradykinin Hypothesis
Bradykinin (BK) (Greek brady-, slow; -kinin, kīn(eîn) to move) is a peptide that promotes inflammation. It causes arterioles to dilate (enlarge) via the release of prostacyclin, nitric oxide, and endothelium-derived hyperpolarizing factor and makes veins constrict, via prostaglandin F2, thereby leading to leakage into capillary beds, due to the increased pressure in the capillaries. Bradykinin is a physiologically and pharmacologically active peptide of the kinin group of proteins, consisting of nine amino acids. A class of drugs called angiotensin converting enzyme inhibitors (ACE inhibitors) increase bradykinin levels by inhibiting its degradation, thereby increasing its blood pressure lowering effect. ACE inhibitors are FDA approved for the treatment of hypertension and heart failure.
  • 1.2K
  • 14 Oct 2022
Topic Review
Werner Syndrome
Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging.
  • 1.2K
  • 23 Dec 2020
Topic Review
GH1 Gene
Growth hormone 1
  • 1.2K
  • 25 Dec 2020
Topic Review
TTR Gene
Transthyretin
  • 1.2K
  • 04 Jan 2021
Topic Review
Hypophosphatasia
Hypophosphatasia is an inherited disorder that affects the development of bones and teeth.
  • 1.2K
  • 23 Dec 2020
Topic Review
CBAVD
Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. 
  • 1.2K
  • 04 Jan 2021
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