Genomic analyses of hair from Ludwig van Beethoven

Signature of chronic hepatitis B virus infection in nails and hair

(2022) Haruki Komatsu et al.   BMC INFECTIOUS DISEASES

Hepatitis B virus DNA in the fingernails and hair of children with acute hepatitis B

(2021) Takumi Harada et al.   JOURNAL OF INFECTION AND CHEMOTHERAPY

Improved Models of Coalescence Ages of Y-DNA Haplogroups

(2021) Iain McDonald   Genes

Ludwig van Beethoven—a psychiatric perspective

(2021) Andreas Erfurth   WIENER MEDIZINISCHE WOCHENSCHRIFT

Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders

(2021) Chris Eijsbouts et al.   NATURE GENETICS

Ten millennia of hepatitis B virus evolution

(2021) Arthur Kocher et al.   SCIENCE

A Modern Case Sheds Light on a Classical Enigma: Beethoven's Deafness

(2020) Davide Brotto et al.   LARYNGOSCOPE

National, regional, and global burdens of disease from 2000 to 2016 attributable to alcohol use: a comparative risk assessment study

(2020) Kevin Shield et al.   Lancet Public Health

Rapid, Phase-free Detection of Long Identity-by-Descent Segments Enables Effective Relationship Classification

(2020) Daniel N. Seidman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Origin and Health Status of First-Generation Africans from Early Colonial Mexico

(2020) Rodrigo Barquera et al.   CURRENT BIOLOGY

Genetics of Postlingual Sensorineural Hearing Loss

(2020) Shadi Ahmadmehrabi et al.   LARYNGOSCOPE

Tutorial: a guide to performing polygenic risk score analyses

(2020) Shing Wan Choi et al.   Nature Protocols

Aetiology of Ludwig van Beethoven’s hearing impairment: hypotheses over the past 100 years – A systematic review

(2020) Jan Peter Thomas et al.   EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

Association of genetic variation with cirrhosis: a multi-trait genome-wide association and gene-environment interaction study

(2020) Connor A. Emdin et al.   GASTROENTEROLOGY

Clinical Genomics for the Diagnosis of Monogenic forms of Inflammatory Bowel Disease

(2020) Holm H. Uhlig et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

PRSice-2: Polygenic Risk Score software for biobank-scale data

(2019) Shing Wan Choi et al.   GigaScience

A Historical-Genetic Reconstruction of Human Extra-Pair Paternity

(2019) Maarten H.D. Larmuseau et al.   CURRENT BIOLOGY

Ysurnames? The patrilineal Y-chromosome and surname correlation for DNA kinship research

(2019) Sofie Claerhout et al.   Forensic Science International-Genetics

Crossover interference and sex-specific genetic maps shape identical by descent sharing in close relatives

(2019) Madison Caballero et al.   PLoS Genetics

snpAD: an ancient DNA genotype caller

(2018) Kay Prüfer   BIOINFORMATICS

Estimating genetic kin relationships in prehistoric populations

(2018) Jose Manuel Monroy Kuhn et al.   PLoS One

Population genomic analysis of elongated skulls reveals extensive female-biased immigration in Early Medieval Bavaria

(2018) Krishna R. Veeramah et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

North African-Mediterranean HLA genetic contribution in a population of the kidney transplant waiting list patients of Canary origin (Gran Canaria)

(2018) J. Martinez-Laso et al.   HLA

Salmonella enterica genomes from victims of a major sixteenth-century epidemic in Mexico

(2018) Åshild J. Vågene et al.   Nature Ecology & Evolution

Quantifying and reducing spurious alignments for the analysis of ultra-short ancient DNA sequences

(2018) Cesare de Filippo et al.   BMC BIOLOGY

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease

(2017) Katrina M de Lange et al.   NATURE GENETICS

Refined genetic maps reveal sexual dimorphism in human meiotic recombination at multiple scales

(2017) Claude Bhérer et al.   Nature Communications

The rs2294918 E434K variant modulates patatin-like phospholipase domain-containing 3 expression and liver damage

(2016) Benedetta Donati et al.   HEPATOLOGY

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

(2016) Christina M. Sloan-Heggen et al.   HUMAN GENETICS

Fluctuation of Viremia in Hepatitis B Virus–Infected Healthcare Workers Performing Exposure-Prone Procedures in the Netherlands

(2016) Stijn F. H. Raven et al.   INFECTION CONTROL AND HOSPITAL EPIDEMIOLOGY

Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

(2016) Sun-Gou Ji et al.   NATURE GENETICS

HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing

(2016) Hansi Weissensteiner et al.   NUCLEIC ACIDS RESEARCH

Cuckolded Fathers Rare in Human Populations

(2016) Maarten H.D. Larmuseau et al.   TRENDS IN ECOLOGY & EVOLUTION

MEGAN Community Edition - Interactive Exploration and Analysis of Large-Scale Microbiome Sequencing Data

(2016) Daniel H. Huson et al.   PLoS Computational Biology

The Role of Iron and Iron Overload in Chronic Liver Disease

(2016) Sandra Milic et al.   MEDICAL SCIENCE MONITOR

A Molecular Approach to the Sexing of the Triple Burial at the Upper Paleolithic Site of Dolní Věstonice

(2016) Alissa Mittnik et al.   PLoS One

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

(2015) Guney Bademci et al.   GENETICS IN MEDICINE

Tag jumps illuminated - reducing sequence-to-sample misidentifications in metabarcoding studies

(2015) Ida Baerholm Schnell et al.   Molecular Ecology Resources

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Accurate multiplexing and filtering for high-throughput amplicon-sequencing

(2015) Philippe Esling et al.   NUCLEIC ACIDS RESEARCH

International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

(2015) Heather J. Cordell et al.   Nature Communications

OptiType: precision HLA typing from next-generation sequencing data

(2014) András Szolek et al.   BIOINFORMATICS

Modeling genome coverage in single-cell sequencing

(2014) Timothy Daley et al.   BIOINFORMATICS

RAxML version 8: a tool for phylogenetic analysis and post-analysis of large phylogenies

(2014) Alexandros Stamatakis   BIOINFORMATICS

ANGSD: Analysis of Next Generation Sequencing Data

(2014) Thorfinn Sand Korneliussen et al.   BMC BIOINFORMATICS

leeHom: adaptor trimming and merging for Illumina sequencing reads

(2014) Gabriel Renaud et al.   NUCLEIC ACIDS RESEARCH

Allele frequency net 2015 update: new features for HLA epitopes, KIR and disease and HLA adverse drug reaction associations

(2014) Faviel F. González-Galarza et al.   NUCLEIC ACIDS RESEARCH

Copy number variants are a common cause of non-syndromic hearing loss

(2014) A Shearer et al.   Genome Medicine

BEAST 2: A Software Platform for Bayesian Evolutionary Analysis

(2014) Remco Bouckaert et al.   PLoS Computational Biology

mapDamage2.0: fast approximate Bayesian estimates of ancient DNA damage parameters

(2013) Hákon Jónsson et al.   BIOINFORMATICS

Lead and the deafness of Ludwig van Beethoven

(2013) Michael H. Stevens et al.   LARYNGOSCOPE

MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and Usability

(2013) K. Katoh et al.   MOLECULAR BIOLOGY AND EVOLUTION

The complete genome sequence of a Neanderthal from the Altai Mountains

(2013) Kay Prüfer et al.   NATURE

Complete mitochondrial genome sequence of a Middle Pleistocene cave bear reconstructed from ultrashort DNA fragments

(2013) J. Dabney et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sequencing Y Chromosomes Resolves Discrepancy in Time to Common Ancestor of Males Versus Females

(2013) G. D. Poznik et al.   SCIENCE

Length and GC-biases during sequencing library amplification: A comparison of various polymerase-buffer systems with ancient and modern DNA sequencing libraries

(2012) Jesse Dabney et al.   BIOTECHNIQUES

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Genotype D of hepatitis B virus and its subgenotypes: An update

(2012) Mukhlid Yousif et al.   HEPATOLOGY RESEARCH

High-resolution HLA haplotype frequencies of stem cell donors in Germany with foreign parentage: How can they be used to improve unrelated donor searches?

(2012) Julia Pingel et al.   HUMAN IMMUNOLOGY

Temporal Patterns of Nucleotide Misincorporations and DNA Fragmentation in Ancient DNA

(2012) Susanna Sawyer et al.   PLoS One

Spatial and Temporal Dynamics of Hepatitis B Virus D Genotype in Europe and the Mediterranean Basin

(2012) Gianguglielmo Zehender et al.   PLoS One

In silico analysis of HLA associations with drug-induced liver injury: use of a HLA-genotyped DNA archive from healthy volunteers

(2012) Ana Alfirevic et al.   Genome Medicine

A Fast, Powerful Method for Detecting Identity by Descent

(2011) Brian L. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

High-resolution human leukocyte antigen allele and haplotype frequencies of the Polish population based on 20,653 stem cell donors

(2011) Alexander H. Schmidt et al.   HUMAN IMMUNOLOGY

Essential Role of the Keratinocyte-Specific Endonuclease DNase1L2 in the Removal of Nuclear DNA from Hair and Nails

(2011) Heinz Fischer et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform

(2011) Martin Kircher et al.   NUCLEIC ACIDS RESEARCH

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Fast stable restricted maximum likelihood and marginal likelihood estimation of semiparametric generalized linear models

(2010) Simon N. Wood   JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES B-STATISTICAL METHODOLOGY

The genome-wide structure of the Jewish people

(2010) Doron M. Behar et al.   NATURE

Multiplexed DNA Sequence Capture of Mitochondrial Genomes Using PCR Products

(2010) Tomislav Maricic et al.   PLoS One

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Fast model-based estimation of ancestry in unrelated individuals

(2009) D. H. Alexander et al.   GENOME RESEARCH

HFEC282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity

(2009) Lyle C. Gurrin et al.   HEPATOLOGY

Removal of deaminated cytosines and detection of in vivo methylation in ancient DNA

(2009) Adrian W. Briggs et al.   NUCLEIC ACIDS RESEARCH

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease

(2008) Stefano Romeo et al.   NATURE GENETICS

The lead in Beethoven's hair

(2007) Josef Eisinger   TOXICOLOGICAL AND ENVIRONMENTAL CHEMISTRY