de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project
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DOI: 10.1002/humu.24455
Abstract: Detection of de novo variants (DNVs) is critical for studies of disease‐related variation and mutation rates. To accelerate DNV calling, we developed a graphics processing units‐based workflow. We applied our workflow to whole‐genome sequencing data… read more here.
Keywords: genomes project; cell; 1000 genomes; novo variant ... See more keywords
Alignment of 1000 Genomes Project reads to reference assembly GRCh38
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DOI: 10.1093/gigascience/gix038
Abstract: Abstract The 1000 Genomes Project produced more than 100 trillion basepairs of short read sequence from more than 2600 samples in 26 populations over a period of five years. In its final phase, the project… read more here.
Keywords: reference assembly; genomes project; 1000 genomes; grch38 ... See more keywords
Genomic coordinates and continental distribution of 120 blood group variants reported by the 1000 Genomes Project
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DOI: 10.1111/trf.14953
Abstract: The 1000 Genomes Project provides a database of genomic variants from whole genome sequencing of 2504 individuals across five continental superpopulations. This database can enrich our background knowledge of worldwide blood group variant geographic distribution… read more here.
Keywords: blood group; genomic coordinates; 1000 genomes; genomes project ... See more keywords
Fine-scale subpopulation detection via an SNP-based unsupervised method: A case study on the 1000 Genomes Project resources.
Sign Up to like & getrecommendations! Published in 2022 at "Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing"
DOI: 10.1142/9789811270611_0023
Abstract: SNP-based information is used in several existing clustering methods to detect shared genetic ancestry or to identify population substructure. Here, we present a methodology, called IPCAPS for unsupervised population analysis using iterative pruning. Our method,… read more here.
Keywords: genomes project; snp based; 1000 genomes; method ... See more keywords
Evaluation of MC1R high-throughput nucleotide sequencing data generated by the 1000 Genomes Project
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DOI: 10.1590/1678-4685-gmb-2016-0180
Abstract: Abstract The advent of next-generation sequencing allows simultaneous processing of several genomic regions/individuals, increasing the availability and accuracy of whole-genome data. However, these new approaches may present some errors and bias due to alignment, genotype… read more here.
Keywords: sequencing data; mc1r high; 1000 genomes; biology ... See more keywords
Open-Access Worldwide Population STR Database Constructed Using High-Coverage Massively Parallel Sequencing Data Obtained from the 1000 Genomes Project
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DOI: 10.3390/genes13122205
Abstract: Achieving accurate STR genotyping by using next-generation sequencing data has been challenging. To provide the forensic genetics community with a reliable open-access STR database, we conducted a comprehensive genotyping analysis of a set of STRs… read more here.
Keywords: str; database; open access; 1000 genomes ... See more keywords