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Academic Article
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The complete genome of an individual by massively parallel DNA sequencing.
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Academic Article
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Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution.
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Academic Article
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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
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Academic Article
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Genetic diversity in India and the inference of Eurasian population expansion.
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Academic Article
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Demographic history and rare allele sharing among human populations.
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Academic Article
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Clan genomics and the complex architecture of human disease.
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Academic Article
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Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence.
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Academic Article
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Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes.
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Academic Article
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Large scale variation in Enterococcus faecalis illustrated by the genome analysis of strain OG1RF.
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Academic Article
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What everybody should know about the rat genome and its online resources.
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Academic Article
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Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children.
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Academic Article
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Comparative and demographic analysis of orang-utan genomes.
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Academic Article
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Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
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Academic Article
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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
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Academic Article
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Minimum information about a marker gene sequence (MIMARKS) and minimum information about any (x) sequence (MIxS) specifications.
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Academic Article
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Analysis of microsatellite variation in Drosophila melanogaster with population-scale genome sequencing.
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Academic Article
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Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
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Concept
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Genetic Variation
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Academic Article
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Combined sequence-based and genetic mapping analysis of complex traits in outbred rats.
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Academic Article
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Whole-genome sequence-based analysis of high-density lipoprotein cholesterol.
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Academic Article
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Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
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Academic Article
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Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.
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Academic Article
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Integrative annotation of variants from 1092 humans: application to cancer genomics.
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Academic Article
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A map of human genome variation from population-scale sequencing.
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Academic Article
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Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study.
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Academic Article
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Neutral genomic regions refine models of recent rapid human population growth.
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Academic Article
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Killer whale nuclear genome and mtDNA reveal widespread population bottleneck during the last glacial maximum.
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Academic Article
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Comparative primate genomics: emerging patterns of genome content and dynamics.
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Academic Article
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Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines.
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Academic Article
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Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.
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Academic Article
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ADAM19 and HTR4 variants and pulmonary function: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.
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Academic Article
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Sequencing of 2 subclinical atherosclerosis candidate regions in 3669 individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.
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Academic Article
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Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.
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Academic Article
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Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.
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Academic Article
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Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium.
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Academic Article
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Coronary heart disease and genetic variants with low phospholipase A2 activity.
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Academic Article
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Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.
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Academic Article
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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
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Academic Article
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An integrated map of structural variation in 2,504 human genomes.
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Academic Article
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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
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Academic Article
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Whole-Exome Sequencing in Familial Parkinson Disease.
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Academic Article
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DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
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Academic Article
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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
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Academic Article
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Genome-culture coevolution promotes rapid divergence of killer whale ecotypes.
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Academic Article
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Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
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Academic Article
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Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.
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Academic Article
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Loss-of-function variants influence the human serum metabolome.
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Academic Article
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
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Academic Article
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An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
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Academic Article
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Lessons learned from additional research analyses of unsolved clinical exome cases.
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Academic Article
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Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.
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Academic Article
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Lipoprotein-associated phospholipase A2 and risk of incident peripheral arterial disease: Findings from The Atherosclerosis Risk in Communities study (ARIC).
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Academic Article
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The gut mycobiome of the Human Microbiome Project healthy cohort.
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Academic Article
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A model species for agricultural pest genomics: the genome of the Colorado potato beetle, Leptinotarsa decemlineata (Coleoptera: Chrysomelidae).
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Academic Article
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SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads.
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Academic Article
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Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host.
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Academic Article
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Extremely low-coverage whole genome sequencing in South Asians captures population genomics information.
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Academic Article
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Phenotypic expansion illuminates multilocus pathogenic variation.
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Academic Article
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Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
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Academic Article
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Diversity and evolution of the transposable element repertoire in arthropods with particular reference to insects.
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Academic Article
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The transcription factor POU3F2 regulates a gene coexpression network in brain tissue from patients with psychiatric disorders.
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Grant
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Filling the data processing gap for exon-region specific data from 1000 Genomes
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Grant
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The Human Genome Sequencing Center
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Academic Article
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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
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Academic Article
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
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Academic Article
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Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
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Academic Article
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A Genocentric Approach to Discovery of Mendelian Disorders.
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Academic Article
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A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
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Academic Article
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Gene content evolution in the arthropods.
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Academic Article
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High-depth African genomes inform human migration and health.
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Academic Article
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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
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Academic Article
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Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
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Academic Article
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Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals.
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Academic Article
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Harmonizing variant classification for return of results in the All of Us Research Program.
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Academic Article
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Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes.
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