Evidence map›Paper›PMID 12205564›Full record

ArticleAmerican journal of human genetics2002

Human diallelic insertion/deletion polymorphisms.

James L Weber, Donna David, Jeremy Heil, Ying Fan, Chengfeng Zhao, Gabor Marth

Abstract read
In one paragraph

Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 125 papers.

0numbers the graph read from it
0cells of the map it votes in
125citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

125 citing papers in PubMed.

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65 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

James L WeberCenter for Medical Genetics, Marshfield Medical Research Foundation, Marshfield, WI 54449, USA. weberj@cmg.mfldclin.edu
Donna David
Jeremy Heil
Ying Fan
Chengfeng Zhao
Gabor Marth

Funding

MAMMALIAN GENOTYPING SERVICEN01HV048141 · HV · MARSHFIELD CLINIC RESEARCH FOUNDATION · PI WEBER, JAMES L. · 1994 to 2000
$3.1M
Genome Sequence Variation ProjectZ01LM000158 · NLM · NATIONAL LIBRARY OF MEDICINE · PI MARTH, GABOR T · 2002 to 2003
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NHLBI NIH HHS HL62681NHLBI NIH HHS HV48141NHLBI NIH HHS N01 HV048141
6 · The paper itself

Abstract

We report the identification and characterization of 2,000 human diallelic insertion/deletion polymorphisms (indels) distributed throughout the human genome. Candidate indels were identified by comparison of overlapping genomic or cDNA sequences. Average confirmation rate for indels with a > or =2-nt allele-length difference was 58%, but the confirmation rate for indels with a 1-nt length difference was only 14%. The vast majority of the human diallelic indels were monomorphic in chimpanzees and gorillas. The ratio of deletionrcolon;insertion mutations was 4.1. Allele frequencies for the indels were measured in Europeans, Africans, Japanese, and Native Americans. New alleles were generally lower in frequency than old alleles. This tendency was most pronounced for the Africans, who are likely to be closest among the four groups to the original modern human population. Diallelic indels comprise approximately 8% of all human polymorphisms. Their abundance and ease of analysis make them useful for many applications.

Indexed as

Biological EvolutionGene FrequencyPolymorphism, GeneticGene DeletionGenetics, PopulationHumansMutagenesis, Insertional

Identifiers

PMID12205564
PMCPMC378541

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.