Evidence map›Paper›PMID 25975447›Full record

ArticleScientific reports2015

Evaluating information content of SNPs for sample-tagging in re-sequencing projects.

Hao Hu, Xiang Liu, Wenfei Jin, H Hilger Ropers, Thomas F Wienker

Abstract read
In one paragraph

Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing 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

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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

11 citing papers in PubMed.

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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

5 authors.

Hao HuDepartment of human molecular genetics, Max-Planck Institute for Molecular Genetics, Berlin, 14195, Germany.
Xiang LiuBlackBerry Deutschland GmbH, Bochum, 44799, Germany.
Wenfei JinSystems Biology Center, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, 20892, USA.
H Hilger RopersDepartment of human molecular genetics, Max-Planck Institute for Molecular Genetics, Berlin, 14195, Germany.
Thomas F WienkerDepartment of human molecular genetics, Max-Planck Institute for Molecular Genetics, Berlin, 14195, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Sample-tagging is designed for identification of accidental sample mix-up, which is a major issue in re-sequencing studies. In this work, we develop a model to measure the information content of SNPs, so that we can optimize a panel of SNPs that approach the maximal information for discrimination. The analysis shows that as low as 60 optimized SNPs can differentiate the individuals in a population as large as the present world, and only 30 optimized SNPs are in practice sufficient in labeling up to 100 thousand individuals. In the simulated populations of 100 thousand individuals, the average Hamming distances, generated by the optimized set of 30 SNPs are larger than 18, and the duality frequency, is lower than 1 in 10 thousand. This strategy of sample discrimination is proved robust in large sample size and different datasets. The optimized sets of SNPs are designed for Whole Exome Sequencing, and a program is provided for SNP selection, allowing for customized SNP numbers and interested genes. The sample-tagging plan based on this framework will improve re-sequencing projects in terms of reliability and cost-effectiveness.

Indexed as

Base SequenceChromosome MappingGene FrequencyGenetic MarkersGenetics, PopulationGenetic VariationGenome, HumanGenotypeHigh-Throughput Nucleotide SequencingHumansModels, TheoreticalPolymorphism, Single NucleotideReproducibility of ResultsSequence Analysis, DNAGenetic Markers

Identifiers

PMID25975447
PMCPMC4432563

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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.