MétaCan
Menu
Back to cohort
Record W2599654837

Do Genes Matter

2016· article· en· W2599654837 on OpenAlexaboutno aff
Thomas R. Verny

Bibliographic record

Venuenot available
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics, Bioinformatics, and Biomedical Research
Canadian institutionsnot available
Fundersnot available
KeywordsGeneticsBiologyDNAB chromosomeGenomeChromosomeGeneKaryotype
DOInot available

Abstract

fetched live from OpenAlex

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. …

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.003
metaresearch head score (Gemma)0.011
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Theoretical or conceptual · Consensus signal: none
GenreCandidate signal: Commentary · Consensus signal: none
Teacher disagreement score0.146
Threshold uncertainty score0.488

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.011
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0010.001
Science and technology studies0.0020.008
Scholarly communication0.0060.006
Open science0.0010.002
Research integrity0.0040.003
Insufficient payload (model declined to judge)0.1460.055

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.015
GPT teacher head0.279
Teacher spread0.264 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designTheoretical or conceptual
Domainnot available
GenreCommentary

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations0
Published2016
Admission routes1
Has abstractyes

Explore more

Same topicGenetics, Bioinformatics, and Biomedical ResearchFrench-language works237,207