Related references
Note: Only part of the references are listed.Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency
Pascual Lorente-Arencibia et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2022)
Curated variation benchmarks for challenging medically relevant autosomal genes
Justin Wagner et al.
NATURE BIOTECHNOLOGY (2022)
Meta-imputation: An efficient method to combine genotype data after imputation with multiple reference panels
Ketian Yu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2022)
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes
Paul Bastard et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2022)
Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic
Christopher J. A. Duncan et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2022)
Long-read trio sequencing of individuals with unsolved intellectual disability
Marc Pauper et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2021)
A state-based approach to genomics for rare disease and population screening
Kelly M. East et al.
GENETICS IN MEDICINE (2021)
Toward a fine-scale population health monitoring system
Gillian M. Belbin et al.
CELL (2021)
Toward predicting CYP2D6-mediated variable drug response from CYP2D6 gene sequencing data
Maaike van der Lee et al.
SCIENCE TRANSLATIONAL MEDICINE (2021)
Queensland Genomics: an adaptive approach for integrating genomics into a public healthcare system
Miranda E. Vidgen et al.
NPJ GENOMIC MEDICINE (2021)
Strategies to Integrate Genomic Medicine into Clinical Care: Evidence from the IGNITE Network
Nina R. Sperber et al.
JOURNAL OF PERSONALIZED MEDICINE (2021)
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls
Yongyi Yuan et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2020)
Discovery of Novel Sequences in 1,000 Swedish Genomes
Jesper Eisfeldt et al.
MOLECULAR BIOLOGY AND EVOLUTION (2020)
The GWAS Diversity Monitor tracks diversity by disease in real time
Melinda C. Mills et al.
NATURE GENETICS (2020)
Admixture mapping of asthma in southwestern Europeans with North African ancestry influences
Beatriz Guillen-Guio et al.
AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US
Hye In Kim et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
Sequencing and imputation in GWAS: Cost-effective strategies to increase power and genomic coverage across diverse populations
Corbin Quick et al.
GENETIC EPIDEMIOLOGY (2020)
Population-specific reference panels are crucial for genetic analyses: an example of the CREBRF locus in Native Hawaiians
Meng Lin et al.
HUMAN MOLECULAR GENETICS (2020)
Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer
Marie Wong et al.
NATURE MEDICINE (2020)
High-depth African genomes inform human migration and health
Ananyo Choudhury et al.
NATURE (2020)
The Missing Diversity in Human Genetic Studies
Giorgio Sirugo et al.
CELL (2019)
Mitogenomes illuminate the origin and migration patterns of the indigenous people of the Canary Islands
Rosa Fregel et al.
PLOS ONE (2019)
Long-Read Sequencing Emerging in Medical Genetics
Tuomo Mantere et al.
FRONTIERS IN GENETICS (2019)
Australian Genomics: A Federated Model for Integrating Genomics into Healthcare
Zornitza Stark et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Iranome: A catalog of genomic variations in the Iranian population
Zohreh Fattahi et al.
HUMAN MUTATION (2019)
Genetic analyses of diverse populations improves discovery for complex traits
Genevieve L. Wojcik et al.
NATURE (2019)
Heterogeneity in Palaeolithic Population Continuity and Neolithic Expansion in North Africa
Gerard Serra-Vidal et al.
CURRENT BIOLOGY (2019)
Chromosome-scale assembly comparison of the Korean Reference Genome KOREF from PromethION and PacBio with Hi-C mapping information
Hui-Su Kim et al.
GIGASCIENCE (2019)
Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania
Gavin Band et al.
NATURE COMMUNICATIONS (2019)
Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing
Masao Nagasaki et al.
HUMAN GENOME VARIATION (2019)
Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy
T. Nutile et al.
SCIENTIFIC REPORTS (2019)
Long-read genome sequencing identifies causal structural variation in a Mendelian disease
Jason D. Merker et al.
GENETICS IN MEDICINE (2018)
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Anath C. Lionel et al.
GENETICS IN MEDICINE (2018)
Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience
Xuyun Hu et al.
GENETICS IN MEDICINE (2018)
KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses
Jungeun Kim et al.
SCIENTIFIC REPORTS (2018)
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Lauge Farnaes et al.
NPJ GENOMIC MEDICINE (2018)
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion
Jennifer Reiner et al.
NPJ GENOMIC MEDICINE (2018)
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families
Inmaculada Martin-Merida et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2018)
The Role of Next-Generation Sequencing in Precision Medicine: A Review of Outcomes in Oncology
Margaret Morash et al.
JOURNAL OF PERSONALIZED MEDICINE (2018)
Clinical exome sequencing: results from 2819 samples reflecting 1000 families
Daniel Trujillano et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom
Himanshu Chheda et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel
Mario Mitt et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits
Lorraine Southam et al.
NATURE COMMUNICATIONS (2017)
Genomic Analyses of Pre-European Conquest Human Remains from the Canary Islands Reveal Close Affinity to Modern North Africans
Ricardo Rodriguez-Varela et al.
CURRENT BIOLOGY (2017)
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
Alicia R. Martin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Whole-Exome Sequencing Implicates DGKH as a Risk Gene for Panic Disorder in the Faroese Population
Noomi O. Gregersen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2016)
On the problem of type 2 diabetes-related mortality in the Canary Islands, Spain. The DARIOS Study
Itahisa Marcelino-Rodriguez et al.
DIABETES RESEARCH AND CLINICAL PRACTICE (2016)
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation
Joaquin Dopazo et al.
MOLECULAR BIOLOGY AND EVOLUTION (2016)
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Dimitri J. Stavropoulos et al.
NPJ GENOMIC MEDICINE (2016)
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
Caroline F. Wright et al.
LANCET (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
The UK10K project identifies rare variants in health and disease
Klaudia Walter et al.
NATURE (2015)
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C. Taylor et al.
NATURE GENETICS (2015)
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
Masao Nagasaki et al.
NATURE COMMUNICATIONS (2015)
Second-generation PLINK: rising to the challenge of larger and richer datasets
Christopher C. Chang et al.
GIGASCIENCE (2015)
Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center's experience
C. Alexander Valencia et al.
FRONTIERS IN PEDIATRICS (2015)
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions
Kelly D. Farwell et al.
GENETICS IN MEDICINE (2015)
The African Genome Variation Project shapes medical genetics in Africa
Deepti Gurdasani et al.
NATURE (2015)
Gain-of-Function ADCY5 Mutations in Familial Dyskinesia with Facial Myokymia
Ying-Zhang Chen et al.
ANNALS OF NEUROLOGY (2014)
AffyPipe: an open-source pipeline for Affymetrix Axiom genotyping workflow
Ezequiel L. Nicolazzi et al.
BIOINFORMATICS (2014)
Cardiovascular Events Associated With Smoking Cessation Pharmacotherapies A Network Meta-Analysis
Edward J. Mills et al.
CIRCULATION (2014)
Genes, the environment and personalized medicine
Chris Carlsten et al.
EMBO REPORTS (2014)
Detecting Structure of Haplotypes and Local Ancestry
Yongtao Guan
GENETICS (2014)
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yaping Yang et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Hane Lee et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Whole-genome sequence variation, population structure and demographic history of the Dutch population
Laurent C. Francioli et al.
NATURE GENETICS (2014)
Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants
Kalliope Panoutsopoulou et al.
NATURE COMMUNICATIONS (2014)
Pharmacogenetics of warfarin: challenges and opportunities
Ming Ta Michael Lee et al.
JOURNAL OF HUMAN GENETICS (2013)
Gene flow from North Africa contributes to differential human genetic diversity in southern Europe
Laura R. Botigue et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Whole genome sequencing in support of wellness and health maintenance
Chirag J. Patel et al.
GENOME MEDICINE (2013)
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
African Ancestry Is Associated with Asthma Risk in African Americans
Carlos Flores et al.
PLOS ONE (2012)
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
Jacob A. Tennessen et al.
SCIENCE (2012)
An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People
Matthew R. Nelson et al.
SCIENCE (2012)
Genomic Ancestry of North Africans Supports Back-to-Africa Migrations
Brenna M. Henn et al.
PLOS GENETICS (2012)
Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
Elizabeth A. Worthey et al.
GENETICS IN MEDICINE (2011)
North African Influences and Potential Bias in Case-Control Association Studies in the Spanish Population
Maria Pino-Yanes et al.
PLOS ONE (2011)
Demographic history and rare allele sharing among human populations
Simon Gravel et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Disproportionately high incidence of diabetes-related end-stage renal disease in the Canary Islands. An analysis based on estimated population at risk
Victor Lorenzo et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2010)
Genetic Ancestry in Lung-Function Predictions
Rajesh Kumar et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Genomic Runs of Homozygosity Record Population History and Consanguinity
Mirna Kirin et al.
PLOS ONE (2010)
Demographic history of Canary Islands male gene-pool: replacement of native lineages by European
Rosa Fregel et al.
BMC EVOLUTIONARY BIOLOGY (2009)
Fast model-based estimation of ancestry in unrelated individuals
David H. Alexander et al.
GENOME RESEARCH (2009)
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Murim Choi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Presentation of the CDC de Canarias Cohort: Objectives, Design and Preliminary Results
Antonio Cabrera de Leon et al.
REVISTA ESPANOLA DE SALUD PUBLICA (2008)
PLINK: A tool set for whole-genome association and population-based linkage analyses
Shaun Purcell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies
Gregory V. Kryukov et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
European population substructure: Clustering of northern and southern populations
Michael F. Seldin et al.
PLOS GENETICS (2006)
Mitochondrial DNA diversity in 17th-18th century remains from Tenerife (Canary Islands)
N Maca-Meyer et al.
AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY (2005)
Leptin and altitude in the cardiovascular diseases
AC de León et al.
OBESITY RESEARCH (2004)
A predominant European ancestry of paternal lineages from Canary Islanders
C Flores et al.
ANNALS OF HUMAN GENETICS (2003)
The origin of the Canary Island aborigines and their contribution to the modern population:: A molecular genetics perspective
C Flores et al.
CURRENT ANTHROPOLOGY (2001)