Drupal-Biblio17<style face="normal" font="default" size="100%">Accurate, scalable cohort variant calls using DeepVariant and GLnexus.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Chromosome-scale, haplotype-resolved assembly of human genomes.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Haplotype-resolved diverse human genomes and integrated analysis of structural variation.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Identification of Required Host Factors for SARS-CoV-2 Infection in Human Cells.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Optimized sample selection for cost-efficient long-read population sequencing.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">SVEP1 is a human coronary artery disease locus that promotes atherosclerosis.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Cell type-specific genetic regulation of gene expression across human tissues.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Combining Imaging and Genetics to Predict Recurrence of Anticoagulation-Associated Intracerebral Hemorrhage.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A common variant in PNPLA3 is associated with age at diagnosis of NAFLD in patients from a multi-ethnic biobank.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Complex mosaic structural variations in human fetal brains.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta).</style>Drupal-Biblio17<style face="normal" font="default" size="100%">dbMTS: A comprehensive database of putative human microRNA target site SNVs and their functional predictions.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Development and validation of the VISAGE AmpliSeq basic tool to predict appearance and ancestry from DNA.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Forensic evaluation of the Asia Pacific ancestry-informative MAPlex assay.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetics of schizophrenia in the South African Xhosa.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genome-Wide Polygenic Score, Clinical Risk Factors, and Long-Term Trajectories of Coronary Artery Disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Heterozygous Gene Deficiency and Risk of Coronary Artery Disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The impact of sex on gene expression across human tissues.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Inherited causes of clonal haematopoiesis in 97,691 whole genomes.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Lung Function in African American Children with Asthma Is Associated with Novel Regulatory Variants of the KIT Ligand and Gene-By-Air-Pollution Interaction.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Mapping and characterization of structural variation in 17,795 human genomes.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The Parkinson's Disease Genome-Wide Association Study Locus Browser.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Parliament2: Accurate structural variant calling at scale.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">PhaseME: Automatic rapid assessment of phasing quality and phasing improvement.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Serum sphingolipids and incident diabetes in a US population with high diabetes burden: the Hispanic Community Health Study/Study of Latinos (HCHS/SOL).</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A structural variation reference for medical and population genetics.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Transcriptomic signatures across human tissues identify functional rare genetic variation.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">A vast resource of allelic expression data spanning human tissues.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic architecture of laterality defects revealed by whole exome sequencing.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic regulatory variation in populations informs transcriptome analysis in rare disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Identification and Validation of Hematoma Volume Cutoffs in Spontaneous, Supratentorial Deep Intracerebral Hemorrhage.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Insights into genetics, human biology and disease gleaned from family based genomic studies.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Monogenic causes of chronic kidney disease in adults.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Redefining the Etiologic Landscape of Cerebellar Malformations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Structural variant calling: the long and the short of it.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Cardioembolic Stroke Risk and Recovery After Anticoagulation-Related Intracerebral Hemorrhage.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Cell type-specific CLIP reveals that NOVA regulates cytoskeleton interactions in motoneurons.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic variants in microRNA genes and targets associated with cardiovascular disease risk factors in the African-American population.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The phenotypic spectrum of Xia-Gibbs syndrome.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">ANGPTL3 Deficiency and Protection Against Coronary Artery Disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic effects on gene expression across human tissues.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">The impact of structural variation on human gene expression.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Polygenic Risk Score Identifies Subgroup With Higher Burden of Atherosclerosis and Greater Relative Benefit From Statin Therapy in the Primary Prevention Setting.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Quantifying the regulatory effect size of -acting genetic variation using allelic fold change.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease.</style>Drupal-Biblio17<style face="normal" font="default" size="100%">Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.</style>