UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Extension of SKAT to multi-category phenotypes through a geometrical interpretation

European journal of human genetics : EJHG, 2021-05, Vol.29 (5), p.736-744

2021

Volltextzugriff (PDF)

End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy

Annals of neurology, 2021-12, Vol.90 (6), p.962-975

2021

Volltextzugriff (PDF)

Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

PLoS genetics, 2022-09, Vol.18 (9), p.e1009923-e1009923

2022

Volltextzugriff (PDF)

Genetic aetiology of glycaemic traits: approaches and insights

Human molecular genetics, 2017-10, Vol.26 (R2), p.R172-R184

2017

Volltextzugriff (PDF)

Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes

Genetic epidemiology, 2023-09, Vol.47 (6), p.450-460

2023

Volltextzugriff (PDF)

Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription

Cell metabolism, 2020-06, Vol.31 (6), p.1107-1119.e12

2020

Volltextzugriff (PDF)

Human genetic structure in Northwest France provides new insights into West European historical demography

Nature communications, 2024-08, Vol.15 (1), p.6710-18, Article 6710

2024

Volltextzugriff (PDF)

Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome

American journal of human genetics, 2010-07, Vol.87 (1), p.129-138

2010

Volltextzugriff (PDF)

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

Human genomics, 2024-02, Vol.18 (1), p.21-21, Article 21

2024

Volltextzugriff (PDF)

PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis

Genetic epidemiology, 2024-09

2024

Volltextzugriff (PDF)

RAVAQ: An integrative pipeline from quality control to region‐based rare variant association analysis

Genetic epidemiology, 2022-07, Vol.46 (5-6), p.256-265

2022

Volltextzugriff (PDF)

Human genetic structure in Northwest France provides new insights into West European historical demography

Nature communications, 2024-08, Vol.15 (1)

2024

Volltextzugriff (PDF)

Rare variant association testing for multicategory phenotype

Genetic epidemiology, 2019-09, Vol.43 (6), p.646-656

2019

Volltextzugriff (PDF)

Advantage of using allele-specific copy numbers when testing for association in regions with common copy number variants

PloS one, 2013-09, Vol.8 (9), p.e75350

2013

Volltextzugriff (PDF)

Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data

BMC genomics, 2012-07, Vol.13 (1), p.326-326, Article 326

2012

Volltextzugriff (PDF)

Next generation modeling in GWAS: comparing different genetic architectures

Human genetics, 2014-10, Vol.133 (10), p.1235-1253

2014

Volltextzugriff (PDF)

Voices: The Author’s Journey

Cell metabolism, 2020-06, Vol.31 (6), p.1037-1040

2020

Volltextzugriff (PDF)

Genetic Susceptibility to Distinct Bladder Cancer Subphenotypes

European urology, 2010-02, Vol.57 (2), p.283-292

2010

Volltextzugriff (PDF)

Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study

Human mutation, 2011-02, Vol.32 (2), p.240-248

2011

Volltextzugriff (PDF)

Whole Genome Prediction of Bladder Cancer Risk With the Bayesian LASSO

Genetic epidemiology, 2014-07, Vol.38 (5), p.467-476

2014

Volltextzugriff (PDF)

Impaired performance of FDR-based strategies in whole-genome association studies when SNPs are excluded prior to the analysis

Genetic epidemiology, 2009-01, Vol.33 (1), p.45-53

2009

Volltextzugriff (PDF)

The UK10K project identifies rare variants in health and disease

Nature (London), 2015-10, Vol.526 (7571), p.82-90

2015

Volltextzugriff (PDF)

1 – 25 von 43

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(41)
Mit Volltextzugriff
(35)

Publikationsform

Artikel
(43)

Sprache

Englisch
(43)

Erscheinungsjahr

n.n

Thema

Science & Technology
(37)
Humans
(29)
Life Sciences & Biomedicine
(26)
Genetics & Heredity
(18)
Life Sciences
(18)
Genomes
(16)
Male
(15)
Female
(13)
Humanities And Social Sciences
(11)
Multidisciplinary Sciences
(11)
Science & Technology - Other Topics
(11)
Alleles
(10)
Middle Aged
(9)
Multidisciplinary
(9)
Science
(9)
Adult
(8)
Case-Control Studies
(8)
Gene Frequency
(8)
Polymorphism, Single Nucleotide
(8)
Aged
(7)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(4)

Menü

Weitere Dienste

Einstellungen

Extension of SKAT to multi-category phenotypes through a geometrical interpretation

End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy

Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

Genetic aetiology of glycaemic traits: approaches and insights

Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes

Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription

Human genetic structure in Northwest France provides new insights into West European historical demography

Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis

RAVAQ: An integrative pipeline from quality control to region‐based rare variant association analysis

Human genetic structure in Northwest France provides new insights into West European historical demography

Rare variant association testing for multicategory phenotype

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Advantage of using allele-specific copy numbers when testing for association in regions with common copy number variants

Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data

Mosaic loss of chromosome Y is associated with common variation near TCL1A

Next generation modeling in GWAS: comparing different genetic architectures

Voices: The Author’s Journey

Genetic Susceptibility to Distinct Bladder Cancer Subphenotypes

Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study

Whole Genome Prediction of Bladder Cancer Risk With the Bayesian LASSO

Reply to ‘Mosaic loss of chromosome Y in leukocytes matters’

Impaired performance of FDR-based strategies in whole-genome association studies when SNPs are excluded prior to the analysis

The UK10K project identifies rare variants in health and disease

Suchergebnisse filtern