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Antibiotic resistance is prevalent in an isolated cave microbiome

PloS one, 2012-04, Vol.7 (4), p.e34953

2012

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The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data

Genome research, 2010-09, Vol.20 (9), p.1297

2010

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The variant call format and VCFtools

Bioinformatics, 2011-08, Vol.27 (15), p.2156-2158

2011

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ContEst: estimating cross-contamination of human samples in next-generation sequencing data

Bioinformatics, 2011-09, Vol.27 (18), p.2601-2602

2011

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De novo mutations in schizophrenia implicate synaptic networks

Nature (London), 2014-02, Vol.506 (7487), p.179-184

2014

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

Nature genetics, 2011-05, Vol.43 (5), p.491-498

2011

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Connexin Controls Cell-Cycle Exit and Cell Differentiation by Directly Promoting Cytosolic Localization and Degradation of E3 Ligase Skp2

Developmental cell, 2015-11, Vol.35 (4), p.483-496

2015

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Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

Nature communications, 2018-10, Vol.9 (1), p.4038-8, Article 4038

2018

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Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

American journal of human genetics, 2012-10, Vol.91 (4), p.597-607

2012

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Microbial diversity in a Venezuelan orthoquartzite cave is dominated by the Chloroflexi (Class Ktedonobacterales) and Thaumarchaeota Group I.1c

Frontiers in microbiology, 2014-11, Vol.5, p.615-615

2014

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Next-generation sequencing for HLA typing of class I loci

BMC genomics, 2011-01, Vol.12 (1), p.42-42, Article 42

2011

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Bacterial Calcium Carbonate Precipitation in Cave Environments: A Function of Calcium Homeostasis

Geomicrobiology journal, 2010-07, Vol.27 (5), p.444-454

2010

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O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD)

Genetics in Medicine Open, 2024, Vol.2, p.101015, Article 101015

2024

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Human urine in Lechuguilla Cave: the microbiological impact and potential for bioremediation

Journal of caves and karst studies, 2012-12, Vol.74 (3), p.278-291

2012

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Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner

Journal of cell science, 2009-02, Vol.122 (3), p.378-388

2009

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A validated lineage-derived somatic truth data set enables benchmarking in cancer genome analysis

Communications biology, 2020-12, Vol.3 (1), p.744-744, Article 744

2020

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Promotion of lens epithelial-fiber differentiation by the C-terminus of connexin 45.6 - a role independent of gap junction communication

Journal of cell science, 2007-10, Vol.120 (20), p.3602-3612

2007

Volltextzugriff (PDF)

Reducing multiples: a mathematical formula that accurately predicts rates of singletons, twins, and higher-order multiples in women undergoing in vitro fertilization

Fertility and sterility, 2012-12, Vol.98 (6), p.1474-1480.e2

2012

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Efficiency and power as a function of sequence coverage, SNP array density, and imputation

PLoS computational biology, 2012-07, Vol.8 (7), p.e1002604-e1002604

2012

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Tools and best practices for data processing in allelic expression analysis

Genome Biology, 2015-09, Vol.16 (1), p.195, Article 195

2015

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Organization of physical interactomes as uncovered by network schemas

PLoS computational biology, 2008-10, Vol.4 (10), p.e1000203-e1000203

2008

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Lean and deep models for more accurate filtering of SNP and INDEL variant calls

Bioinformatics, 2020-04, Vol.36 (7), p.2060-2067

2020

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Amino Acid Residue Val362 Plays a Critical Role in Maintaining the Structure of C Terminus of Connexin 50 and in Lens Epithelial-fiber Differentiation

The Journal of biological chemistry, 2010-06, Vol.285 (24), p.18415-18422

2010

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Antibiotic resistance is prevalent in an isolated cave microbiome

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data

The variant call format and VCFtools

ContEst: estimating cross-contamination of human samples in next-generation sequencing data

De novo mutations in schizophrenia implicate synaptic networks

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Connexin Controls Cell-Cycle Exit and Cell Differentiation by Directly Promoting Cytosolic Localization and Degradation of E3 Ligase Skp2

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

Microbial diversity in a Venezuelan orthoquartzite cave is dominated by the Chloroflexi (Class Ktedonobacterales) and Thaumarchaeota Group I.1c

Next-generation sequencing for HLA typing of class I loci

Bacterial Calcium Carbonate Precipitation in Cave Environments: A Function of Calcium Homeostasis

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD)

Human urine in Lechuguilla Cave: the microbiological impact and potential for bioremediation

Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner

A validated lineage-derived somatic truth data set enables benchmarking in cancer genome analysis

Promotion of lens epithelial-fiber differentiation by the C-terminus of connexin 45.6 - a role independent of gap junction communication

Reducing multiples: a mathematical formula that accurately predicts rates of singletons, twins, and higher-order multiples in women undergoing in vitro fertilization

Efficiency and power as a function of sequence coverage, SNP array density, and imputation

Tools and best practices for data processing in allelic expression analysis

Organization of physical interactomes as uncovered by network schemas

Lean and deep models for more accurate filtering of SNP and INDEL variant calls

A polygenic burden of rare disruptive mutations in schizophrenia

Amino Acid Residue Val362 Plays a Critical Role in Maintaining the Structure of C Terminus of Connexin 50 and in Lens Epithelial-fiber Differentiation

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