Runs of homozygosity: windows into population history and trait architecture

Overview of the BioBank Japan Project: Study design and profile

(2017) Akiko Nagai et al.   JOURNAL OF EPIDEMIOLOGY

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

(2017) Danish Saleheen et al.   NATURE

Genomic insights into the population structure and history of the Irish Travellers

(2017) Edmund Gilbert et al.   Scientific Reports

BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data

(2016) Vagheesh Narasimhan et al.   BIOINFORMATICS

Runs of homozygosity and inbreeding in thyroid cancer

(2016) Hauke Thomsen et al.   BMC CANCER

Intrinsic differences between males and females determine sex-specific consequences of inbreeding

(2016) Emily R. Ebel et al.   BMC EVOLUTIONARY BIOLOGY

The Demographic Development of the First Farmers in Anatolia

(2016) Gülşah Merve Kılınç et al.   CURRENT BIOLOGY

The genetic history of Cochin Jews from India

(2016) Yedael Y. Waldman et al.   HUMAN GENETICS

Million Veteran Program: A mega-biobank to study genetic influences on health and disease

(2016) John Michael Gaziano et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Ancient gene flow from early modern humans into Eastern Neanderthals

(2016) Martin Kuhlwilm et al.   NATURE

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

(2016) Eric M Scott et al.   NATURE GENETICS

Inbreeding depression across the lifespan in a wild mammal population

(2016) Jisca Huisman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Health and population effects of rare gene knockouts in adult humans with related parents

(2016) V. M. Narasimhan et al.   SCIENCE

No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study

(2016) Emma C. Johnson et al.   PLoS Genetics

Runs of Homozygosity: Association with Coronary Artery Disease and Gene Expression in Monocytes and Macrophages

(2015) Paraskevi Christofidou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape

(2015) George B.J. Busby et al.   CURRENT BIOLOGY

Extensive genome-wide autozygosity in the population isolates of Daghestan

(2015) Tatiana M Karafet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Homozygosity mapping in an Irish ALS case–control cohort describes local demographic phenomena and points towards potential recessive risk loci

(2015) Russell L. McLaughlin et al.   GENOMICS

Royal Inbreeding and the Extinction of Lineages of the Habsburg Dynasty

(2015) Gonzalo Álvarez et al.   HUMAN HEREDITY

Increased Rate of Deleterious Variants in Long Runs of Homozygosity of an Inbred Population from Qatar

(2015) Massimo Mezzavilla et al.   HUMAN HEREDITY

Homozygous loss-of-function variants in European cosmopolitan and isolate populations

(2015) Vera B. Kaiser et al.   HUMAN MOLECULAR GENETICS

Genome-Wide Survey of Runs of Homozygosity Identifies Recessive Loci for Bone Mineral Density in Caucasian and Chinese Populations

(2015) Tie-Lin Yang et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Genome-wide autozygosity is associated with lower general cognitive ability

(2015) D P Howrigan et al.   MOLECULAR PSYCHIATRY

DNA mutation clock proves tough to set

(2015) Ewen Callaway   NATURE

Directional dominance on stature and cognition in diverse human populations

(2015) Peter K. Joshi et al.   NATURE

Neolithic and Bronze Age migration to Ireland and establishment of the insular Atlantic genome

(2015) Lara M. Cassidy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

(2015) Y. Xue et al.   SCIENCE

Upper Palaeolithic genomes reveal deep roots of modern Eurasians

(2015) Eppie R. Jones et al.   Nature Communications

Inbreeding and homozygosity in breast cancer survival

(2015) Hauke Thomsen et al.   Scientific Reports

Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy

(2015) Ivan Y. Iourov et al.   Molecular Cytogenetics

Calibrating the Human Mutation Rate via Ancestral Recombination Density in Diploid Genomes

(2015) Mark Lipson et al.   PLoS Genetics

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals

(2015) Mahdi Ghani et al.   JAMA Neurology

Educational Attainment Influences Levels of Homozygosity through Migration and Assortative Mating

(2015) Abdel Abdellaoui et al.   PLoS One

Characterizing runs of homozygosity and their impact on risk for psychosis in a population isolate

(2014) Nadine M. Melhem et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

A recessive genetic model and runs of homozygosity in major depressive disorder

(2014) Robert A. Power et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

H 3 M 2 : detection of runs of homozygosity from whole-exome sequencing data

(2014) Alberto Magi et al.   BIOINFORMATICS

Darwin was right: inbreeding depression on male fertility in the Darwin family

(2014) Gonzalo Álvarez et al.   BIOLOGICAL JOURNAL OF THE LINNEAN SOCIETY

Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

(2014) Nadine Jalkh et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

(2014) Ilaria Gandin et al.   GENETICS IN MEDICINE

Detection of Runs of Homozygosity from Whole Exome Sequencing Data: State of the Art and Perspectives for Clinical, Population and Epidemiological Studies

(2014) Tommaso Pippucci et al.   HUMAN HEREDITY

High inbreeding in the Faroe Islands does not appear to constitute a risk factor for multiple sclerosis

(2014) S Binzer et al.   Multiple Sclerosis Journal

The Association of Genotype-Based Inbreeding Coefficient with a Range of Physical and Psychological Human Traits

(2014) Karin J. H. Verweij et al.   PLoS One

High-throughput sequencing reveals inbreeding depression in a natural population

(2014) J. I. Hoffman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Genetic Atlas of Human Admixture History

(2014) G. Hellenthal et al.   SCIENCE

Genome flux and stasis in a five millennium transect of European prehistory

(2014) Cristina Gamba et al.   Nature Communications

Runs of Homozygosity Implicate Autozygosity as a Schizophrenia Risk Factor

(2014) Matthew C. Keller et al.   PLoS Genetics

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

(2014) Elaine T. Lim et al.   PLoS Genetics

Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex Autism

(2013) Ece D. Gamsiz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long Runs of Homozygosity Are Enriched for Deleterious Variation

(2013) Zachary A. Szpiech et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Power of Meta-Analysis in Genome-Wide Association Studies

(2013) Orestis A. Panagiotou et al.   Annual Review of Genomics and Human Genetics

Association Between Autozygosity and Major Depression: Stratification Due to Religious Assortment

(2013) Abdel Abdellaoui et al.   BEHAVIOR GENETICS

Genome-wide estimates of inbreeding in unrelated individuals and their association with cognitive ability

(2013) Robert A Power et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Royal dynasties as human inbreeding laboratories: the Habsburgs

(2013) F C Ceballos et al.   HEREDITY

Great ape genetic diversity and population history

(2013) Javier Prado-Martinez et al.   NATURE

The complete genome sequence of a Neanderthal from the Altai Mountains

(2013) Kay Prüfer et al.   NATURE

Runs of Homozygosity Associated with Speech Delay in Autism in a Taiwanese Han Population: Evidence for the Recessive Model

(2013) Ping-I Lin et al.   PLoS One

Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation

(2013) Ahmed B. Alsalem et al.   PLoS Genetics

Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History

(2012) Pier Francesco Palamara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ethiopian Genetic Diversity Reveals Linguistic Stratification and Complex Influences on the Ethiopian Gene Pool

(2012) Luca Pagani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomic Patterns of Homozygosity in Worldwide Human Populations

(2012) Trevor J. Pemberton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Turkish Population Structure and Genetic Ancestry Reveal Relatedness among Eurasian Populations

(2012) Uğur Hodoğlugil et al.   ANNALS OF HUMAN GENETICS

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

(2012) Tõnu Esko et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing

(2012) Lauren Grote et al.   GENETICS IN MEDICINE

Colorectal cancer risk is not associated with increased levels of homozygosity in Saudi Arabia

(2012) Abdul K. Siraj et al.   GENETICS IN MEDICINE

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

(2012) Kristen Lipscomb Sund et al.   GENETICS IN MEDICINE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Estimating the human mutation rate using autozygosity in a founder population

(2012) Catarina D Campbell et al.   NATURE GENETICS

Integrative Genomic Analysis Reveals Extended Germline Homozygosity with Lung Cancer Risk in the PLCO Cohort

(2012) Mohammed S. Orloff et al.   PLoS One

A Genome-Wide Homozygosity Association Study Identifies Runs of Homozygosity Associated with Rheumatoid Arthritis in the Human Major Histocompatibility Complex

(2012) Hsin-Chou Yang et al.   PLoS One

Detecting Identity by Descent and Homozygosity Mapping in Whole-Exome Sequencing Data

(2012) Zhong Zhuang et al.   PLoS One

Genomic Variation in Seven Khoe-San Groups Reveals Adaptation and Complex African History

(2012) C. M. Schlebusch et al.   SCIENCE

Evidence of Inbreeding Depression on Human Height

(2012) Ruth McQuillan et al.   PLoS Genetics

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

(2012) Maria H. Chahrour et al.   PLoS Genetics

Shared and Unique Components of Human Population Structure and Genome-Wide Signals of Positive Selection in South Asia

(2011) Mait Metspalu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

UPD detection using homozygosity profiling with a SNP genotyping microarray

(2011) Peter Papenhausen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2011) Daniel P Howrigan et al.   BMC GENOMICS

Genome-wide homozygosity and multiple sclerosis in Orkney and Shetland Islanders

(2011) Rebekah E McWhirter et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?

(2011) Anne-Louise Leutenegger et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Quantification of Inbreeding Due to Distant Ancestors and Its Detection Using Dense Single Nucleotide Polymorphism Data

(2011) Matthew C. Keller et al.   GENETICS

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

(2011) Jillian P. Casey et al.   HUMAN GENETICS

China Kadoorie Biobank of 0.5 million people: survey methods, baseline characteristics and long-term follow-up

(2011) Z. Chen et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Identification of incestuous parental relationships by SNP-based DNA microarrays

(2011) CP Schaaf et al.   LANCET

The Caucasus as an Asymmetric Semipermeable Barrier to Ancient Human Migrations

(2011) B. Yunusbayev et al.   MOLECULAR BIOLOGY AND EVOLUTION

Runs of Homozygosity Do Not Influence Survival to Old Age

(2011) Maris Kuningas et al.   PLoS One

Hunter-gatherer genomic diversity suggests a southern African origin for modern humans

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

High-Resolution Detection of Identity by Descent in Unrelated Individuals

(2010) Sharon R. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Was the Darwin/Wedgwood Dynasty Adversely Affected by Consanguinity?

(2010) Tim M. Berra et al.   BIOSCIENCE

Genome-wide homozygosity signatures and childhood acute lymphoblastic leukemia risk

(2010) F. J. Hosking et al.   BLOOD

Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations

(2010) Victor Enciso-Mora et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Autozygome decoded

(2010) Fowzan S. Alkuraya   GENETICS IN MEDICINE

Genomic and geographic distribution of SNP-defined runs of homozygosity in Europeans

(2010) Michael Nothnagel et al.   HUMAN MOLECULAR GENETICS

Ancestry and Pathology in King Tutankhamun's Family

(2010) Zahi Hawass   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Runs of Homozygosity Identify a Recessive Locus 12q21.31 for Human Adult Height

(2010) Tie-Lin Yang et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The genome-wide structure of the Jewish people

(2010) Doron M. Behar et al.   NATURE

Ancient human genome sequence of an extinct Palaeo-Eskimo

(2010) Morten Rasmussen et al.   NATURE

Genomic Runs of Homozygosity Record Population History and Consanguinity

(2010) Mirna Kirin et al.   PLoS One

Genome-wide patterns of population structure and admixture among Hispanic/Latino populations

(2010) K. Bryc et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Colorectal Cancer Risk Is Not Associated with Increased Levels of Homozygosity in a Population from the United Kingdom

(2009) S. L. Spain et al.   CANCER RESEARCH

The genetics of inbreeding depression

(2009) Deborah Charlesworth et al.   NATURE REVIEWS GENETICS

Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease

(2009) M. A. Nalls et al.   NEUROGENETICS

The Role of Inbreeding in the Extinction of a European Royal Dynasty

(2009) Gonzalo Alvarez et al.   PLoS One

Consanguinity, human evolution, and complex diseases

(2009) A. H. Bittles et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

No evidence for excess runs of homozygosity in bipolar disorder

(2009) Anna E. Vine et al.   PSYCHIATRIC GENETICS

Evaluation of Haplotype Inference Using Definitive Haplotype Data Obtained from Complete Hydatidiform Moles, and Its Significance for the Analyses of Positively Selected Regions

(2009) Koichiro Higasa et al.   PLoS Genetics

Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics

(2009) Michael A. Nalls et al.   PLoS Genetics

Runs of Homozygosity in European Populations

(2008) Ruth McQuillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Study of Regions of Extended Homozygosity Provides a Powerful Method to Explore Haplotype Structure of Human Populations

(2008) D. Curtis et al.   ANNALS OF HUMAN GENETICS

The Signatures of Autozygosity among Patients with Colorectal Cancer

(2008) M. D. Bacolod et al.   CANCER RESEARCH

Quantifying the increase in average human heterozygosity due to urbanisation

(2008) Igor Rudan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Whole population, genome-wide mapping of hidden relatedness

(2008) A. Gusev et al.   GENOME RESEARCH

Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

(2008) J. Z. Li et al.   SCIENCE