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An integrated analysis tool for analyzing hybridization intensities and genotypes using new-generation population-optimized human arrays

Overview of attention for article published in BMC Genomics, March 2016
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Title
An integrated analysis tool for analyzing hybridization intensities and genotypes using new-generation population-optimized human arrays
Published in
BMC Genomics, March 2016
DOI 10.1186/s12864-016-2478-8
Pubmed ID
Authors

Mei-Chu Huang, Tzu-Po Chuang, Chien-Hsiun Chen, Jer-Yuarn Wu, Yuan-Tsong Chen, Ling-Hui Li, Hsin-Chou Yang

Abstract

Affymetrix Axiom single nucleotide polymorphism (SNP) arrays provide a cost-effective, high-density, and high-throughput genotyping solution for population-optimized analyses. However, no public software is available for the integrated genomic analysis of hybridization intensities and genotypes for this new-generation population-optimized genotyping platform. A set of statistical methods was developed for an integrated analysis of allele frequency (AF), allelic imbalance (AI), loss of heterozygosity (LOH), long contiguous stretch of homozygosity (LCSH), and copy number variation or alteration (CNV/CNA) on the basis of SNP probe hybridization intensities and genotypes. This study analyzed 3,236 samples that were genotyped using different SNP platforms. The proposed AF adjustment method considerably increased the accuracy of AF estimation. The proposed quick circular binary segmentation algorithm for segmenting copy number reduced the computation time of the original segmentation method by 30-67 %. The proposed CNV/CNA detection, which integrates AI and LOH/LCSH detection, had a promising true positive rate and well-controlled false positive rate in simulation studies. Moreover, our real-time quantitative polymerase chain reaction experiments successfully validated the CNVs/CNAs that were identified in the Axiom data analyses using the proposed methods; some of the validated CNVs/CNAs were not detected in the Affymetrix Array 6.0 data analysis using the Affymetrix Genotyping Console. All the analysis functions are packaged into the ALICE (AF/LOH/LCSH/AI/CNV/CNA Enterprise) software. ALICE and the used genomic reference databases, which can be downloaded from http://hcyang.stat.sinica.edu.tw/software/ALICE.html , are useful resources for analyzing genomic data from the Axiom and other SNP arrays.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 27 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Netherlands 1 4%
Denmark 1 4%
Unknown 25 93%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 5 19%
Researcher 5 19%
Student > Doctoral Student 2 7%
Student > Bachelor 2 7%
Student > Postgraduate 2 7%
Other 7 26%
Unknown 4 15%
Readers by discipline Count As %
Agricultural and Biological Sciences 6 22%
Biochemistry, Genetics and Molecular Biology 6 22%
Medicine and Dentistry 3 11%
Economics, Econometrics and Finance 2 7%
Unspecified 1 4%
Other 3 11%
Unknown 6 22%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 05 April 2016.
All research outputs
#13,973,215
of 22,858,915 outputs
Outputs from BMC Genomics
#5,352
of 10,662 outputs
Outputs of similar age
#154,892
of 301,001 outputs
Outputs of similar age from BMC Genomics
#126
of 228 outputs
Altmetric has tracked 22,858,915 research outputs across all sources so far. This one is in the 37th percentile – i.e., 37% of other outputs scored the same or lower than it.
So far Altmetric has tracked 10,662 research outputs from this source. They receive a mean Attention Score of 4.7. This one is in the 46th percentile – i.e., 46% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 301,001 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 228 others from the same source and published within six weeks on either side of this one. This one is in the 39th percentile – i.e., 39% of its contemporaries scored the same or lower than it.