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Record W1928428494 · doi:10.4212/cjhp.v55i1.532

The Human Genome Project

2002· article· en· W1928428494 on OpenAlexvenueno aff
Scott Walker

Bibliographic record

VenueThe Canadian Journal of Hospital Pharmacy · 2002
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Chromatin Dynamics
Canadian institutionsnot available
Fundersnot available
KeywordsHuman genomeGenomeGeneticsGenome projectDNA sequencingBase pairGeneDNASequence (biology)Computational biologyBiologyReference genome

Abstract

fetched live from OpenAlex

Human chromosomes contain the DNA for thousands of individual genes. Each gene is a segment of double-stranded DNA that holds the code for making a specific molecule, usually a protein. The code is spelled out in various sequences of the 4 chemical bases in DNA: adenine (A), thymine (T), guanine (G), and cytosine (C). In 1990 the Human Genome Project was initiated. Its goal was to determine the complete nucleotide sequence of DNA and to localize the estimated 50 000 to 100 000 genes within the human genome. The initial 5-year research plan set specific goals for what was expected to be a 15-year project. The first and second 5-year plans outlined the intention to sequence the human genome and study genetic variation and functional analysis of the genome. It is now anticipated that the 15-year project will be finished ahead of schedule, in 2003, just 50 years after the discovery of the double-helix structure of DNA by Watson and Crick. However, it is possible that less than the totality of the genome will have been decoded by then, because some areas, such as the centromeres, are not amenable to automated assembly because of their highly repetitive sequences. Determining the base-pair sequence of a strand of DNA is not entirely straightforward. Today’s most popular method for base-pair sequencing was reported in 1977 by Sanger and others. This method involves replicating each strand of DNA, adding a known base-pair sequence to each strand, and dividing the replicates into 4 groups. Nucleotide bases are then added, and base pairing begins. Each nucleotide base has a complementary base with which it can pair (A pairs with T, and G pairs with C). However, base pairing can be halted by means of a specific chain terminator — a modified nucleotide of adenine, thymine, guanine, or cytosine. Because pairing halts where the chain terminator binds, chains of various sizes are created by the chain terminator. To 1 of the original 4 groups, only an adenine chain terminator is added, such that chains in that group halt where the chain terminator of A is paired. The same process is followed for the other 3 groups and the other 3 chain terminators. All 4 groups of DNA fragments are then separated according to their size by means of electrophoresis. Starting with the smallest piece, the chain terminator is “read”. If the smallest piece appears in the “A” column, then the first nucleotide in the chain is adenosine. This process continues until the entire code of the original piece is determined. About 1 year ago, 2 groups of researchers simultaneously published their DNA sequence results. In fact, neither group had completely sequenced all human DNA. Many small portions of the highly The Human Genome Project

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)0.008
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Review · Consensus signal: none
Teacher disagreement score0.150
Threshold uncertainty score0.502

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.008
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0050.009
Science and technology studies0.0010.001
Scholarly communication0.0030.002
Open science0.0020.003
Research integrity0.0020.002
Insufficient payload (model declined to judge)0.1500.114

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 head0.250
Teacher spread0.235 · 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 designNot applicable
Domainnot available
GenreReview

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

Citations1
Published2002
Admission routes1
Has abstractyes

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