Why is "Exome sequencing" trending?

Search Interest Perspective

• Helix Launches Whole Exome Sequencing Test Combining Exome, Mitochondrial, and Digital Karyotype Analysis - Clinical Lab Products
• Negative or Inconclusive Kidney Gene Panel? When To Consider Exome Sequencing - Cleveland Clinic
• A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner - Nature
• Whole-Exome Sequencing Identifies Multiple OCD, Chronic Tic Disorder Risk Genes - Inside Precision Medicine
• Genetic Testing in Hospitals and Clinics: How Yale Advanced Whole Exome Sequencing - Yale School of Medicine
• Whole Exome Sequencing Market to Hit USD 10.24 Billion by - globenewswire.com
• Scientists use whole exome sequencing to discover a new rare genetic disease - News-Medical
• Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights - Wiley & Sons
• Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity - Nature
• Secondary Findings Explained: The Unexpected Genetic Results Worth Knowing - 3billion.io
• X-linked Hypophosphatemic Rickets Revealed by Exome Sequencing: A Pediatric Case Report of a PHEX Pathogenic Variant - Cureus
• Exome Sequencing Finds Cause in 1 in 8 Unexplained Ovarian Insufficiency Cases - Clinical Lab Products
• Blended Genome–Exome Sequencing Slashes Costs Without Quality Loss - Inside Precision Medicine
• OBGYN - Wiley & Sons
• Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DDD-Africa study - Nature
• Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype-Specific Analysis - Wiley & Sons
• Exome sequencing identifies known and candidate genes in hearing impairment in Cameroon - Nature
• Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia - Nature
• A convolutional attention model classifies copy number variants from whole exome sequencing - Nature
• Whole-exome sequencing and burden analysis identify six novel candidate risk genes and expand the genetic landscape of Parkinson’s disease - Nature
• Whole-exome sequencing identification of the risk variants in a middle-aged adult with intracranial Ewing’s sarcoma: A case report - Baishideng Publishing Group
• Trio Whole Exome Sequencing Identifies Abundant Rare and De Novo Variants in Chinese Childhood-Onset SLE - Vera Health
• Case Report: Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia: diagnostic pitfalls of whole-exome sequencing - Frontiers
• Whole Exome Sequencing Market Size to Hit USD 3,014.19 Million by 2035 - precedenceresearch.com
• Clonal tracing of rare anal metastasis in esophageal squamous cell carcinoma: a case report with whole-exome sequencing and multimodal therapy - Frontiers
• Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios - Glassner - 2026 - Prenatal Diagnosis - Wiley & Sons
• Analysis of gene mutation spectrum for early-onset high myopia based on whole-exome sequencing - The BMJ
• Whole exome sequencing reveals UNC45B as a novel candidate gene functionally associated with Dilated Cardiomyopathy - medRxiv
• Predicting the diagnostic efficacy of trio-based whole exome sequencing in children with low-function autism spectrum disorders: a multicenter study - Frontiers
• Key Players in Whole Exome Sequencing Market and Innovations - SNS Insider
• Type 0 Spinal Muscular Atrophy Detected by Prenatal Exome Sequencing: Towards a Recognizable Fetal Phenotype - Wiley & Sons
• Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review - Wiley & Sons
• The evolving state of exome and genome sequencing - Fierce Healthcare
• Whole-exome sequencing analysis identifies risk genes for schizophrenia - Nature
• Whole‐Exome Sequencing Revealed a Novel De Novo Pathogenic EFTUD2 Variant in Mandibulofacial Dysostosis, Guion‐Almeida Type: Reinforcing Links to Choanal and Oesophageal Atresia - Wiley Online Library
• Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment - Anales de Pediatría
• Bipartisan Bill Would Expand Medicaid Coverage for Pediatric Genomic Sequencing - Clinical Lab Products
• Whole exome sequencing analysis identifies genes for alcohol consumption - Nature
• Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyond - Nature
• The genetic landscape of primary malignant melanoma of the cervix using integrated bioinformatics analysis and whole-exome sequencing - Frontiers
• Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson’s disease risk - Nature
• Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease - Nature
• Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families | European Journal of Human Genetics - Nature
• Benchmarking of variant calling software for whole-exome sequencing using gold standard datasets - Nature
• Exome sequencing and characterization of 49,960 individuals in the UK Biobank - Nature
• Diagnostic Utility of Exome Sequencing for Kidney Disease - NEJM
• Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes - Nature
• Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population | npj Genomic Medicine - Nature
• The role of exome sequencing in newborn screening for inborn errors of metabolism - Nature
• Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression - Nature
• Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders - Nature
• Large-scale whole-exome sequencing analyses identified protein-coding variants associated with immune-mediated diseases in 350,770 adults - Nature
• Rare variant associations of chronic pain conditions in the UK Biobank Whole Exome Sequencing - medRxiv
• Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders | Genetics in Medicine - Nature
• Integrating rapid exome sequencing into NICU clinical care after a pilot research study - Nature
• Exome sequencing and analysis of 454,787 UK Biobank participants - Nature
• Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk - Nature
• Whole exome sequencing identified six novel genes for depressive symptoms | Molecular Psychiatry - Nature
• Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits - Nature
• Large-scale whole-exome sequencing of neuropsychiatric diseases and traits in 350,770 adults - Nature
• Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study - Nature
• Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing - NEJM
• Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset - Nature
• Integration of whole-exome sequencing and structural neuroimaging analysis in major depressive disorder: a joint study - Nature
• Whole exome sequencing of multi-regions reveals tumor heterogeneity in Opisthorchis viverrini -associated cholangiocarcinoma - Nature
• Five years’ experience of the clinical exome sequencing in a Spanish single center - Nature
• From Caudal Regression to Wieacker-Wolff Syndrome: The Decisive Role of Postmortem Examination and Exome Sequencing in Revising a Prenatal Diagnosis - Cureus
• Whole-exome sequencing reveals genomic landscape of intrahepatic cholangiocarcinoma and identifies SAV1 as a potential driver - Nature
• Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank - Nature
• Exome sequencing identifies genes associated with sleep-related traits - Nature
• Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis - NEJM
• Inferring compound heterozygosity from large-scale exome sequencing data - Nature
• Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia - Nature
• ECOLE: Learning to call copy number variants on whole exome sequencing data - Nature
• Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis - Nature
• Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes - Nature
• Large-scale exome sequencing identified 18 novel genes for neuroticism in 394,005 UK-based individuals - Nature
• Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population - Nature
• Whole Genome Sequencing at the Price of Whole Exome Sequencing: How is it Possible? - 3billion.io
• A domestic cat whole exome sequencing resource for trait discovery - Nature
• Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder - Nature
• Parents’ understanding of genome and exome sequencing for pediatric health conditions: a systematic review - Nature
• Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families - Nature
• Reanalysis of Clinical Exome Sequencing Data - NEJM
• Whole-exome sequencing study identifies rare variants and genes associated with intraocular pressure and glaucoma - Nature
• Whole-exome sequencing in pediatric patients with glomerulonephritis - Frontiers
• Exome sequencing shows same pattern of clonal tumor mutational burden, intratumor heterogenicity and clonal neoantigen between autologous tumor and Vigil product - Nature
• Clinical exome sequencing for inherited retinal degenerations at a tertiary care center - Nature
• Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus - Nature
• Largest Whole Exome Sequencing Study of Epilepsy to Date Finds New Genetic Links - Inside Precision Medicine
• Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene - Frontiers
• Genetic ancestry and diagnostic yield of exome sequencing in a diverse population - Nature
• Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders - NEJM
• Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes - Nature
• Findings of a 1303 Korean whole-exome sequencing study - Nature
• Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes - Nature
• Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome - Nature
• The diagnostic yield of exome sequencing in liver diseases from a curated gene panel - Nature
• Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma - Nature
• Clinical application of whole-exome sequencing across clinical indications - Nature