Pages that link to "Q39070311"
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The following pages link to Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study (Q39070311):
Displaying 50 items.
- Big Data Analytics for Genomic Medicine (Q30235891) (← links)
- From Rosalind Franklin to Barack Obama: Data Sharing Challenges and Solutions in Genomics and Personalised Medicine (Q33738299) (← links)
- Advances in Therapeutic Approaches to Extend Healthspan: a perspective from the 2nd Scripps Symposium on the Biology of Aging (Q38430701) (← links)
- Big data opens a window onto wellness (Q38634669) (← links)
- Early Diagnosis of Sepsis: Is an Integrated Omics Approach the Way Forward? (Q38669814) (← links)
- Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives (Q38748304) (← links)
- Precisely Where Are We Going? Charting the New Terrain of Precision Prevention. (Q38820915) (← links)
- Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish (Q38827776) (← links)
- Genetic identification of familial hypercholesterolemia within a single U.S. health care system (Q39070299) (← links)
- Genome instability: a conserved mechanism of ageing? (Q39333493) (← links)
- A high-fidelity method for genomic sequencing of single somatic cells reveals a very high mutational burden (Q39454064) (← links)
- Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system. (Q40045934) (← links)
- Penetrance and the Healthy Elderly (Q40056345) (← links)
- Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research (Q41627953) (← links)
- Whole genome sequencing in psychiatric disorders: the WGSPD consortium. (Q45950157) (← links)
- Human gene essentiality (Q46065137) (← links)
- Frequency of mononuclear diploid cardiomyocytes underlies natural variation in heart regeneration (Q46345451) (← links)
- Loss-of-function of neuroplasticity-related genes confers risk for human neurodevelopmental disorders (Q47107747) (← links)
- Actionable secondary findings from whole-genome sequencing of 954 East Asians (Q47184079) (← links)
- Prioritizing diversity in human genomics research. (Q47213433) (← links)
- Genetic basis of human congenital anomalies of the kidney and urinary tract (Q47224735) (← links)
- Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants (Q47277580) (← links)
- Peripheral Arterial Disease Genetics: Progress to Date and Challenges Ahead (Q47864520) (← links)
- "Pheno"menal value for human health (Q48007548) (← links)
- Insights from population-based analyses of plasma lipids across the allele frequency spectrum (Q49967906) (← links)
- Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling (Q50084574) (← links)
- Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder (Q50421965) (← links)
- Electronic health records: the next wave of complex disease genetics. (Q52352782) (← links)
- Rare variants in drug target genes contributing to complex diseases, phenome-wide. (Q52353760) (← links)
- A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease. (Q52644811) (← links)
- Organic cation transporter 1 (OCT1) modulates multiple cardiometabolic traits through effects on hepatic thiamine content. (Q52691298) (← links)
- Big data from electronic health records for early and late translational cardiovascular research: challenges and potential. (Q52705350) (← links)
- Pathogenicity of De Novo Rare Variants: Challenges and Opportunities. (Q52751809) (← links)
- Collective feature selection to identify crucial epistatic variants. (Q53070109) (← links)
- A large electronic-health-record-based genome-wide study of serum lipids. (Q53700633) (← links)
- Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease. (Q55259915) (← links)
- Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes. (Q55272361) (← links)
- Implementation of a patient-facing genomic test report in the electronic health record using a web-application interface. (Q55431501) (← links)
- Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability. (Q55618795) (← links)
- Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study (Q56980485) (← links)
- 1 in 38 individuals at risk of a dominant medically actionable disease (Q57021660) (← links)
- Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program (Q57059956) (← links)
- Challenges and Solutions for Future Pharmacy Practice in the Era of Precision Medicine (Q57171377) (← links)
- Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations (Q57193593) (← links)
- The BabySeq project: implementing genomic sequencing in newborns (Q57306568) (← links)
- Phenome-wide association studies across large population cohorts support drug target validation (Q57459322) (← links)
- A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort (Q57640078) (← links)
- Secondary findings in 421 whole exome-sequenced Chinese children (Q57643360) (← links)
- Generation and Implementation of a Patient-Centered and Patient-Facing Genomic Test Report in the EHR (Q57646321) (← links)
- Report: NIA workshop on translating genetic variants associated with longevity into drug targets (Q58103185) (← links)