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Genomes Project

The analysis of APOL1 genetic variation and haplotype diversity provided by 1000 Genomes project

The analysis of APOL1 genetic variation and haplotype diversity provided by 1000 Genomes project

... 1000 Genomes Phase 3 Pipeline, included 2504 individ- uals from 26 human populations as described in NCBI Variation Glossary ...1000 Genomes server ...1000 Genomes Project is ...

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Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

... study. UK BiLEVE is a particularly powerful study since it has sampled UK Biobank individuals from the extremes of the lung function distribution, and it has spirometry performed in a uniform way across individuals. Had ...

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Mycoplasma contamination in the 1000 Genomes Project

Mycoplasma contamination in the 1000 Genomes Project

... Mycoplasma genomes for 75 879 DNA sequences drawn from The 1000 Genomes Project (but does not match them with the human reference genome) the accuracy of the match varies con- ...1000 Genomes ...

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Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

... The descriptions of the lung eQTL dataset and subject demographics have been published previously 7-9 . Briefly, non-tumor lung tissues were collected from patients who underwent lung resection surgery at three ...

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Coordinated international action to accelerate genome to phenome with FAANG, the Functional Annotation of Animal Genomes project

Coordinated international action to accelerate genome to phenome with FAANG, the Functional Annotation of Animal Genomes project

... A high-quality reference genome assembly is a prerequis- ite to initiate a functional annotation effort. Consequently, we propose to start by selecting taxonomically diverse spe- cies with high-quality genome assemblies. ...

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LDSplitDB: a database for studies of meiotic recombination hotspots in MHC using human genomic data

LDSplitDB: a database for studies of meiotic recombination hotspots in MHC using human genomic data

... Single nucleotide polymorphism (SNP) is one of the most easily obtained and common types of genetic vari- ation. The development of genomic sequencing technol- ogy provides the opportunity to genotype or sequence a large ...

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The African Genome Variation Project shapes medical genetics in Africa

The African Genome Variation Project shapes medical genetics in Africa

... numbers G0901213-92157, G0801566, G0600718 and MR/K013491/1). We also acknowledge the National Institute for Health Research Cambridge Biomedical Research Centre and the Wellcome Trust Cambridge Centre for Global Health ...

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Adaptively introgressed Neandertal haplotype at the OAS locus functionally impacts innate immune responses in humans

Adaptively introgressed Neandertal haplotype at the OAS locus functionally impacts innate immune responses in humans

... 1000 Genomes Project [20] at the 11 NLS falling within the bounds of the three OAS genes, based on the an- cient allele frequencies estimated by Mathieson et ...

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FineMAV: prioritizing candidate genetic variants driving local adaptations in human populations

FineMAV: prioritizing candidate genetic variants driving local adaptations in human populations

... 1000 Genomes Project (Phase 3) [37] to discover positive selection signals in Africa, East Asia, and Europe, and tested the results by examining whether or not: (1) our method was able to separate the other ...

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Computational approaches to interpreting genomic sequence variation

Computational approaches to interpreting genomic sequence variation

... Ward and Kellis [15] used variation data from the 1000 Genomes Project to demonstrate that a wide range of annotated elements, including non-coding re- gions, show evidence of purifying [r] ...

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Choosing Subsamples for Sequencing Studies by Minimizing the Average Distance to the Closest Leaf

Choosing Subsamples for Sequencing Studies by Minimizing the Average Distance to the Closest Leaf

... 1000 Genomes Project, we show that ADCL provides a signi fi cant improvement in imputation accuracy, especially for imputation of sites with low-frequency ...

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Meeting report of the 2017 KidGen Renal Genetics Symposium

Meeting report of the 2017 KidGen Renal Genetics Symposium

... 1000 Genomes Project; ACMG: American College of Medical Genetics and Genomics; AGHA: Australian Genomics Health Alliance; ESKD: End-stage kidney disease; EM: Electron microscopy; GA4GH: Global Alliance for ...

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Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo

Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo

... 1000 Genomes Project data, performed logistic regression to identify independent association signals, and genotyped the most significant SNPs at each locus (Supplementary Table 3) in an independent ...

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Inferring the Probability of the Derived vs. the Ancestral Allelic State at a Polymorphic Site

Inferring the Probability of the Derived vs. the Ancestral Allelic State at a Polymorphic Site

... 1000 Genomes Project Consortium (2010, 2015) have been widely used ...1000 Genomes method and the JC model depart from the K2 model and the R6 model at the right-hand side of the inferred uSFS ...

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Is it time to change the reference genome?

Is it time to change the reference genome?

... personal genomes in 2007 [29, 30], the emerging differences between genomes suggested that the reference could not easily serve as a univer- sal or ‘gold-standard’ genome (see Box 1 for defini- ...HapMap ...

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Interpretation of personal genome sequencing data in terms of disease ranks based on mutual information

Interpretation of personal genome sequencing data in terms of disease ranks based on mutual information

... 1000 Genomes Project ...1000 Genomes Project Consortium showed genetic variation within and between populations using the same data that this study used ...

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High-quality permanent draft genome sequence of the extremely osmotolerant diphenol degrading bacterium Halotalea alkalilenta AW-7T, and emended description of the genus Halotalea

High-quality permanent draft genome sequence of the extremely osmotolerant diphenol degrading bacterium Halotalea alkalilenta AW-7T, and emended description of the genus Halotalea

... Members of the genus Halotalea (family Halomonadaceae) are of high significance since they can tolerate the greatest glucose and maltose concentrations ever reported for known bacteria and are involved in the degradation ...

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High-quality permanent draft genome sequence of Bradyrhizobium sp. Th.b2, a microsymbiont of Amphicarpaea bracteata collected in Johnson City, New York

High-quality permanent draft genome sequence of Bradyrhizobium sp. Th.b2, a microsymbiont of Amphicarpaea bracteata collected in Johnson City, New York

... Bradyrhizobium sp. Th.b2 was isolated from a root nod- ule of Amphicarpaea bracteata collected from Johnson City, New York. Little is currently known of the symbi- otic associations of its host Amphicarpaea bracteata. ...

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Complete genome sequence and description of Salinispira pacifica gen. nov., sp. nov., a novel spirochaete isolated form a hypersaline microbial mat

Complete genome sequence and description of Salinispira pacifica gen. nov., sp. nov., a novel spirochaete isolated form a hypersaline microbial mat

... The strain was chosen for genome sequencing according to its low 16S rRNA gene sequence identity value to related type strains.. Project information is available from the Genomes OnLine [r] ...

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CogStack - experiences of deploying integrated information retrieval and extraction services in a large National Health Service Foundation Trust hospital

CogStack - experiences of deploying integrated information retrieval and extraction services in a large National Health Service Foundation Trust hospital

... Governance, security and process issues require sig- nificant consideration in the development of standard operating procedures. It is likely that many Trusts have procedures in place to manage business intelligence, ...

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