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
Implications for the colorectal surgeon following the 100 000 Genomes Project
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DOI: 10.1111/codi.15539
Abstract: The 100 000 Genomes Project was completed in 2019 with the objective of integrating genomic medicine into routine National Health Service (NHS) clinical pathways. This project and genomic research will revolutionize the way we practice… read more here.
Keywords: medicine; 100 000; genomes project; colorectal surgeon ... 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
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation
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DOI: 10.1136/jmedgenet-2020-107528
Abstract: Supplemental methods The 100K Genomes Project (100KGP) is a national genome sequencing initiative approved by the HRA Committee East of England, Cambridge South (REC: 14/EE/1112). More information about this project is available online (www.genomicsengland.co.uk and… read more here.
Keywords: data 100; project resolve; using data; genomes project ... See more keywords
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
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DOI: 10.1136/jmedgenet-2021-108065
Abstract: Background Primary ciliopathies represent a group of inherited disorders due to defects in the primary cilium, the ‘cell’s antenna’. The 100,000 Genomes Project was launched in 2012 by Genomics England (GEL), recruiting National Health Service… read more here.
Keywords: caused ciliopathies; 100 000; genomes project; malformations caused ... See more keywords
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
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DOI: 10.1136/jmedgenet-2022-108476
Abstract: Background The 100 000 Genomes Project (100K) recruited National Health Service patients with eligible rare diseases and cancer between 2016 and 2018. PanelApp virtual gene panels were applied to whole genome sequencing data according to Human… read more here.
Keywords: genomes project; recruiting clinicians; 000 genomes; 100 000 ... 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