scholarly journals High-accuracy HLA type inference from whole-genome sequencing data

2015 ◽  
Author(s):  
Alexander Dilthey ◽  
Pierre-Antoine Gourraud ◽  
Zamin Iqbal ◽  
Gil McVean
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Sequence Similarity ◽  
Type Inference ◽  
Whole Genome Sequencing Data ◽  
Whole Genome ◽  
Sequencing Data ◽  
Hla Type ◽  
Gold Standard Reference ◽  
First Time

Extensive hyperpolymorphism and sequence similarity between the HLA genes make HLA type inference from whole-genome sequencing data a challenging problem. We address these by representing sequences from over 10,000 known alleles in a reference graph structure, enabling accurate read mapping. HLA*PRG, our algorithm, outperforms existing methods by a wide margin and for the first time consistently achieves the accuracy of gold-standard reference methods with one error across 158 alleles tested.

scholarly journals High-Accuracy HLA Type Inference from Whole-Genome Sequencing Data Using Population Reference Graphs

2016 ◽  
Vol 12 (10) ◽  
pp. e1005151 ◽  
Author(s):  
Alexander T. Dilthey ◽  
Pierre-Antoine Gourraud ◽  
Alexander J. Mentzer ◽  
Nezih Cereb ◽  
Zamin Iqbal ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
High Accuracy ◽  
Type Inference ◽  
Whole Genome Sequencing Data ◽  
Whole Genome ◽  
Sequencing Data ◽  
Hla Type

scholarly journals Cyrius: accurate CYP2D6 genotyping using whole genome sequencing data

2020 ◽  
Author(s):  
Xiao Chen ◽  
Fei Shen ◽  
Nina Gonzaludo ◽  
Alka Malhotra ◽  
Cande Rogert ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Sequence Similarity ◽  
Ethnically Diverse ◽  
Haplotype Frequency ◽  
Superior Performance ◽  
Whole Genome Sequencing Data ◽  
Whole Genome ◽  
Structural Variants ◽  
Sequencing Data

AbstractResponsible for the metabolism of 25% of clinically used drugs, CYP2D6 is a critical component of personalized medicine initiatives. Genotyping CYP2D6 is challenging due to sequence similarity with its pseudogene paralog CYP2D7 and a high number and variety of common structural variants (SVs). Here we describe a novel bioinformatics method, Cyrius, that accurately genotypes CYP2D6 using whole-genome sequencing (WGS) data. We show that Cyrius has superior performance (96.5% concordance with truth genotypes) compared to existing methods (84-86.8%). After implementing the improvements identified from the comparison against the truth data, Cyrius’s accuracy has since been improved to 99.3%. Using Cyrius, we built a haplotype frequency database from 2504 ethnically diverse samples and estimate that SV-containing star alleles are more frequent than previously reported. Cyrius will be an important tool to incorporate pharmacogenomics in WGS-based precision medicine initiatives.

scholarly journals Genome-Wide Identification and Analysis of Variants in Domestic and Wild Bactrian Camels Using Whole-Genome Sequencing Data

2020 ◽  
Vol 2020 ◽  
pp. 1-9
Author(s):  
Nemat Hedayat-Evrigh ◽  
Reza Khalkhali-Evrigh ◽  
Mohammad Reza Bakhtiarizadeh
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome Sequencing Data ◽  
Whole Genome ◽  
Sequencing Data ◽  
Mountain Regions ◽  
Genome Wide ◽  
Risk Of Extinction ◽  
Bactrian Camels ◽  
First Time

The population size of Bactrian camels is smaller than dromedary, and they are distributed in cold and mountain regions and are also at the risk of extinction in some countries such as Iran. To identify and investigate the genome-wide variations, whole-genome sequencing of two Iranian Bactrian camels were performed with 37.4- and 42.6-fold coverage for the first time. Along with Iranian Bactrian camels, sequencing data from two Mongolian domestic and two wild Bactrian camels deposited in the NCBI were reanalyzed. The analysis eventuated to the identification of 4,908,998, 4,485,725, and 4,706,654 SNPs for Iranian, Mongolian domestic, and wild Bactrian camels, respectively. Also, INDEL variations ranged from 358,311 to 533,188 in all six camels. Results of variants annotation in all samples revealed that more than 88 percent of SNPs and INDELs were located in the intergenic and intronic regions. We found that 800,530 SNPs were common among all studied camels, containing 4,046 missense variants that affected 2,428 genes. Investigation of common genes among all camels containing the missense SNPs showed that there are 98 zinc finger and 4 fertility-related genes (ZP1, ZP2, ZP4, and ZPBP) in this set.

scholarly journals Whole genome sequencing reveals high differentiation, low levels of genetic diversity and short runs of homozygosity among Swedish wels catfish

Heredity ◽  
2021 ◽  
Author(s):  
Axel Jensen ◽  
Mette Lillie ◽  
Kristofer Bergström ◽  
Per Larsson ◽  
Jacob Höglund
Keyword(s):  
Genetic Diversity ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome Sequencing Data ◽  
Peripheral Populations ◽  
Whole Genome ◽  
Runs Of Homozygosity ◽  
Sequencing Data ◽  
Isolated Populations ◽  
Native Populations

AbstractThe use of genetic markers in the context of conservation is largely being outcompeted by whole-genome data. Comparative studies between the two are sparse, and the knowledge about potential effects of this methodology shift is limited. Here, we used whole-genome sequencing data to assess the genetic status of peripheral populations of the wels catfish (Silurus glanis), and discuss the results in light of a recent microsatellite study of the same populations. The Swedish populations of the wels catfish have suffered from severe declines during the last centuries and persists in only a few isolated water systems. Fragmented populations generally are at greater risk of extinction, for example due to loss of genetic diversity, and may thus require conservation actions. We sequenced individuals from the three remaining native populations (Båven, Emån, and Möckeln) and one reintroduced population of admixed origin (Helge å), and found that genetic diversity was highest in Emån but low overall, with strong differentiation among the populations. No signature of recent inbreeding was found, but a considerable number of short runs of homozygosity were present in all populations, likely linked to historically small population sizes and bottleneck events. Genetic substructure within any of the native populations was at best weak. Individuals from the admixed population Helge å shared most genetic ancestry with the Båven population (72%). Our results are largely in agreement with the microsatellite study, and stresses the need to protect these isolated populations at the northern edge of the distribution of the species.

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