A High-Coverage Genome Sequence from an Archaic Denisovan Individual

Predicting homo pigmentation phenotype through genomic data: From neanderthal to James Watson

(2012) Caio C S Cerqueira et al.   AMERICAN JOURNAL OF HUMAN BIOLOGY

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

Cost-effective, high-throughput DNA sequencing libraries for multiplexed target capture

(2012) N. Rohland et al.   GENOME RESEARCH

Insights into hominid evolution from the gorilla genome sequence

(2012) Aylwyn Scally et al.   NATURE

Temporal Patterns of Nucleotide Misincorporations and DNA Fragmentation in Ancient DNA

(2012) Susanna Sawyer et al.   PLoS One

Contrasting Properties of Gene-Specific Regulatory, Coding, and Copy Number Mutations in Saccharomyces cerevisiae: Frequency, Effects, and Dominance

(2012) Jonathan D. Gruber et al.   PLoS Genetics

Denisova Admixture and the First Modern Human Dispersals into Southeast Asia and Oceania

(2011) David Reich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family

(2011) Wenjing Shen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2011) H. Li   BIOINFORMATICS

Expression patterns of PRDM10 during mouse embryonic development

(2011) Jin-Ah Park et al.   BMB Reports

Detecting autozygosity through runs of homozygosity: A comparison of three autozygosity detection algorithms

(2011) Daniel P Howrigan et al.   BMC GENOMICS

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

(2011) M. Ventura et al.   GENOME RESEARCH

True single-molecule DNA sequencing of a pleistocene horse bone

(2011) L. Orlando et al.   GENOME RESEARCH

OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans

(2011) Ellen E. Quillen et al.   HUMAN GENETICS

Testing for Ancient Admixture between Closely Related Populations

(2011) Eric Y. Durand et al.   MOLECULAR BIOLOGY AND EVOLUTION

Comparative and demographic analysis of orang-utan genomes

(2011) Devin P. Locke et al.   NATURE

Inference of human population history from individual whole-genome sequences

(2011) Heng Li et al.   NATURE

Analyses of X-linked and autosomal genetic variation in population-scale whole genome sequencing

(2011) Srikanth Gottipati et al.   NATURE GENETICS

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Variation in the mutation rate across mammalian genomes

(2011) Alan Hodgkinson et al.   NATURE REVIEWS GENETICS

SNPedia: a wiki supporting personal genome annotation, interpretation and analysis

(2011) Michael Cariaso et al.   NUCLEIC ACIDS RESEARCH

ENCODE whole-genome data in the UCSC Genome Browser: update 2012

(2011) K. R. Rosenbloom et al.   NUCLEIC ACIDS RESEARCH

Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform

(2011) Martin Kircher et al.   NUCLEIC ACIDS RESEARCH

Archaic human ancestry in East Asia

(2011) P. Skoglund et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Strong reproductive isolation between humans and Neanderthals inferred from observed patterns of introgression

(2011) M. Currat et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Who Were the Denisovans?

(2011) A. Gibbons   SCIENCE

Classic Selective Sweeps Were Rare in Recent Human Evolution

(2011) R. D. Hernandez et al.   SCIENCE

MicroRNA-Driven Developmental Remodeling in the Brain Distinguishes Humans from Other Primates

(2011) Mehmet Somel et al.   PLOS BIOLOGY

The History of African Gene Flow into Southern Europeans, Levantines, and Jews

(2011) Priya Moorjani et al.   PLoS Genetics

Natural Selection Affects Multiple Aspects of Genetic Variation at Putatively Neutral Sites across the Human Genome

(2011) Kirk E. Lohmueller et al.   PLoS Genetics

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

A Complete mtDNA Genome of an Early Modern Human from Kostenki, Russia

(2010) Johannes Krause et al.   CURRENT BIOLOGY

Genomic signatures of germline gene expression

(2010) G. McVicker et al.   GENOME RESEARCH

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

(2010) A. McKenna et al.   GENOME RESEARCH

Herc5 Attenuates Influenza A Virus by Catalyzing ISGylation of Viral NS1 Protein

(2010) Y. Tang et al.   JOURNAL OF IMMUNOLOGY

The ISG15 Conjugation System Broadly Targets Newly Synthesized Proteins: Implications for the Antiviral Function of ISG15

(2010) Larissa A. Durfee et al.   MOLECULAR CELL

mlRho - a program for estimating the population mutation and recombination rates from shotgun-sequenced diploid genomes

(2010) BERNHARD HAUBOLD et al.   MOLECULAR ECOLOGY

The complete mitochondrial DNA genome of an unknown hominin from southern Siberia

(2010) Johannes Krause et al.   NATURE

Genetic history of an archaic hominin group from Denisova Cave in Siberia

(2010) David Reich et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

The ratio of human X chromosome to autosome diversity is positively correlated with genetic distance from genes

(2010) Michael F Hammer et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Insulators and promoters: closer than we think

(2010) Jesse R. Raab et al.   NATURE REVIEWS GENETICS

Genomewide Association Studies and Assessment of the Risk of Disease

(2010) Teri A. Manolio   NEW ENGLAND JOURNAL OF MEDICINE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The UCSC Genome Browser database: update 2011

(2010) P. A. Fujita et al.   NUCLEIC ACIDS RESEARCH

Genomic Runs of Homozygosity Record Population History and Consanguinity

(2010) Mirna Kirin et al.   PLoS One

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

Targeted Investigation of the Neandertal Genome by Array-Based Sequence Capture

(2010) H. A. Burbano et al.   SCIENCE

A Draft Sequence of the Neandertal Genome

(2010) R. E. Green et al.   SCIENCE

A Common Variation in EDAR Is a Genetic Determinant of Shovel-Shaped Incisors

(2009) Ryosuke Kimura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

A Humanized Version of Foxp2 Affects Cortico-Basal Ganglia Circuits in Mice

(2009) Wolfgang Enard et al.   CELL

Attention-deficit/hyperactivity disorder phenotype is influenced by a functional catechol-O-methyltransferase variant

(2009) Haukur Pálmason et al.   JOURNAL OF NEURAL TRANSMISSION

Detecting Ancient Admixture and Estimating Demographic Parameters in Multiple Human Populations

(2009) Jeffrey D. Wall et al.   MOLECULAR BIOLOGY AND EVOLUTION

Izumo is part of a multiprotein family whose members form large complexes on mammalian sperm

(2009) Diego A. Ellerman et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Personalized copy number and segmental duplication maps using next-generation sequencing

(2009) Can Alkan et al.   NATURE GENETICS

Prefrontal and striatal dopaminergic genes predict individual differences in exploration and exploitation

(2009) Michael J Frank et al.   NATURE NEUROSCIENCE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Genomewide Association Studies and Human Disease

(2009) John Hardy et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Genetic susceptibility to schizophrenia: role of dopaminergic pathway gene polymorphisms

(2009) Meenal Gupta et al.   PHARMACOGENOMICS

The origin of Neandertals

(2009) J. J. Hublin   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Oxytocin receptor genetic variation relates to empathy and stress reactivity in humans

(2009) Sarina M. Rodrigues et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Influence of DRD2 and ANKK1 genotypes on apomorphine-induced growth hormone (GH) response in alcohol-dependent patients

(2009) Michael Lucht et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

Targeted Retrieval and Analysis of Five Neandertal mtDNA Genomes

(2009) A. W. Briggs et al.   SCIENCE

Doubts about complex speciation between humans and chimpanzees

(2009) Daven C. Presgraves et al.   TRENDS IN ECOLOGY & EVOLUTION

Gene flow and species delimitation

(2009) Rémy J. Petit et al.   TRENDS IN ECOLOGY & EVOLUTION

Widespread Genomic Signatures of Natural Selection in Hominid Evolution

(2009) Graham McVicker et al.   PLoS Genetics

Improved base calling for the Illumina Genome Analyzer using machine learning strategies

(2009) Martin Kircher et al.   GENOME BIOLOGY

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

(2009) Ben Langmead et al.   GENOME BIOLOGY

Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

(2008) Maricela Alarcón et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism

(2008) Dan E. Arking et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color

(2008) Richard A. Sturm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

LUZP deficiency affects neural tube closure during brain development

(2008) Chia-Yi Hsu et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A Complete Neandertal Mitochondrial Genome Sequence Determined by High-Throughput Sequencing

(2008) Richard E. Green et al.   CELL

Translation Initiation on Mammalian mRNAs with Structured 5′UTRs Requires DExH-Box Protein DHX29

(2008) Vera P. Pisareva et al.   CELL

Mechanism of Ubiquitin-Chain Formation by the Human Anaphase-Promoting Complex

(2008) Lingyan Jin et al.   CELL

Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

(2008) Mary Glancy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Application of massively parallel sequencing to microRNA profiling and discovery in human embryonic stem cells

(2008) R. D. Morin et al.   GENOME RESEARCH

Genome-wide nucleotide-level mammalian ancestor reconstruction

(2008) B. Paten et al.   GENOME RESEARCH

Enredo and Pecan: Genome-wide mammalian consistency-based multiple alignment with paralogs

(2008) B. Paten et al.   GENOME RESEARCH

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

(2008) Hans Eiberg et al.   HUMAN GENETICS

Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form

(2008) Chunyan Mou et al.   HUMAN MUTATION

Taurodontism: a review of the condition and endodontic treatment challenges

(2008) H. Jafarzadeh et al.   INTERNATIONAL ENDODONTIC JOURNAL

Serotonin 5-HT2B Receptors Are Required for 3,4-Methylenedioxymethamphetamine-Induced Hyperlocomotion and 5-HT Release In Vivo and In Vitro

(2008) S. Doly et al.   JOURNAL OF NEUROSCIENCE

Widespread changes in protein synthesis induced by microRNAs

(2008) Matthias Selbach et al.   NATURE

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

Natural selection has driven population differentiation in modern humans

(2008) Luis B Barreiro et al.   NATURE GENETICS

A Functional Genetic Link between Distinct Developmental Language Disorders

(2008) Sonja C. Vernes et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Impact of Recombination on Nucleotide Substitutions in the Human Genome

(2008) Laurent Duret et al.   PLoS Genetics