Notice bibliographique
Résumé
Genetics Made SimpleWe start with chromosomes. A chromosome is an organized package of DNA found in the nucleus of the cell. Different organisms have different numbers of chromosomes. Humans have 23 pairs of chromosomes.It is impossible to discuss genetics without the use of scientific jargon. For this I ask your forgiveness and patience. Even if you find some of these terms daunting, please read on. You will get the gist of it. Relax! There is no exam after you have finished the lesson.* 22 pairs of numbered chromosomes, called autosomes, and one pair of sex chromosomes, X and Y.* Each parent contributes one chromosome to each pair so that offspring get half of their chromosomes from their mother and half from their father.Chromosomes are found in the nucleus of each cell. They are made of DNA strands. Sections of chromosomes are called genes and code for protein, that is, everything in our bodies from the neurons in our brain down to the nails on our toes. In order to produce protein, DNA (deoxyribonucleic acid) needs to be transcribed into RNA (ribonucleic acid). RNA gets translated into protein.DNA Sequencing is the process by which the exact order of the 3 billion chemical building blocks called bases is determined. They are* adenine (A)* thymine (T)* cytosine (C)* guanine (G)The Human Genome contains an estimated 25,000-35,000 genes as well as the regions (switches) controlling them. A genome is the complete set of DNA in a cell. DNA carries the instructions for building all of the proteins that make each living creature unique. 25,000 - 35,000 genes make up only 5% of the entire genome. rest consists of switches. Referring to the Human Genome: it is like you have a 100 page book, and 95 pages are instructions on how to read the other five pages. (Sapolsky, 1994/2001)Charles Darwin in On the Origin of Species, wrote that evolutionary changes take place over many generations and through millions of years of natural selection. Human geneticists have had remarkable success in identifying individual genes with variations that lead to simple Mendelian traits and diseases such as phenylketonuria (PKU), sickle-cell anemia, Tay-Sachs disease, and cystic fibrosis (Botstein & Risch 2003; Risch 2000). Diseases with simple Mendelian patterns of inheritance are uncommon, while most human diseases and traits such as schizophrenia, alcohol dependence, or diabetes, to mention just a few, are complex and multifactorial. Personality development and behavior is considered complex because they are constituted of an array of genetic and psychosocio-economic-cultural components.The front cover of TIME Magazine, October 25th, 2004, depicted the serene countenance of a blue phantom-like figure, with long flowing hair, eyes closed, hands folded as if in prayer, a golden double helix of DNA imprinted almost mystically upon her forehead. title of the cover story was also in gold, The God Gene: Does our DNA compel us to seek a higher power? featured article inside that issue hypothesized on the presence of a god Gene in our genome (Kluger, Chu, Liston, Sieger, & Williams, 2004).Stories like this make no sense at all. There is no God Gene, or Anger Gene, or Schizophrenia Gene. It takes many genes to effect a disease or a personality trait. By the same token a different combination of the same genes can create intelligence, musical abilities, foresight, etc. Researchers from the University of Geneva report that genetic variation at a single genomic position impacts multiple, separate genes. If one element changes, the whole system in which this element is embedded will be altered (Watzak et al, 2015).According to Michael Meaney (2001), who specializes in biological psychiatry and gene expression at McGill University, Montreal, At no point in life is the operation of the genome independent of the context in which it functions. …
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,003 | 0,011 |
| Méta-épidémiologie (sens strict) | 0,001 | 0,000 |
| Méta-épidémiologie (sens large) | 0,001 | 0,000 |
| Bibliométrie | 0,001 | 0,001 |
| Études des sciences et des technologies | 0,002 | 0,008 |
| Communication savante | 0,006 | 0,006 |
| Science ouverte | 0,001 | 0,002 |
| Intégrité de la recherche | 0,004 | 0,003 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,146 | 0,055 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule source (Gemma direct ou Codex distillé), pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».