Sullivan, P. F. & Geschwind, D. H. Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders. Cell 177, 162183 (2019).
Article CAS PubMed PubMed Central Google Scholar
de Leeuw, C. A., Neale, B. M., Heskes, T. & Posthuma, D. The statistical properties of gene-set analysis. Nat. Rev. Genet. 17, 353364 (2016).
Article PubMed Google Scholar
Subramanian, A. et al. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc. Natl Acad. Sci. USA 102, 15545 (2005).
Article CAS PubMed PubMed Central Google Scholar
Ashburner, M. et al. Gene Ontology: tool for the unification of biology. Nat. Genet. 25, 2529 (2000).
Article CAS PubMed PubMed Central Google Scholar
Koopmans, F. et al. SynGO: an evidence-based, expert-curated knowledge base for the synapse. Neuron 103, 217234.e4 (2019).
Article CAS PubMed PubMed Central Google Scholar
Hill, W. D. et al. A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. Mol. Psychiatry 24, 169181 (2019).
Article CAS PubMed Google Scholar
Howard, D. M. et al. Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions. Nat. Neurosci. 22, 343352 (2019).
Article CAS PubMed PubMed Central Google Scholar
Trubetskoy, V. et al. Mapping genomic loci implicates genes and synaptic biology in schizophrenia. Nature 604, 502508 (2022).
Article CAS PubMed PubMed Central Google Scholar
de Leeuw, C. A., Mooij, J. M., Heskes, T. & Posthuma, D. MAGMA: generalized gene-set analysis of GWAS data. PLoS Comput. Biol. 11, e1004219 (2015).
Article PubMed PubMed Central Google Scholar
Simillion, C., Liechti, R., Lischer, H. E. L., Ioannidis, V. & Bruggmann, R. Avoiding the pitfalls of gene set enrichment analysis with SetRank. BMC Bioinform. 18, 151 (2017).
Article Google Scholar
Finucane, H. K. et al. Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat. Genet. 47, 12281235 (2015).
Article CAS PubMed PubMed Central Google Scholar
Goeman, J. J. & Bhlmann, P. Analyzing gene expression data in terms of gene sets: methodological issues. Bioinformatics 23, 980987 (2007).
Article CAS PubMed Google Scholar
Tashman, K. C., Cui, R., OConnor, L. J., Neale, B. M. & Finucane, H. K. Significance testing for small annotations in stratified LD-Score regression. Preprint at medRxiv https://doi.org/10.1101/2021.03.13.21249938 (2021).
Speed, D., Cai, N., Johnson, M. R., Nejentsev, S. & Balding, D. J. Reevaluation of SNP heritability in complex human traits. Nat. Genet. 49, 986992 (2017).
Article CAS PubMed PubMed Central Google Scholar
Zabad, S., Ragsdale, A. P., Sun, R., Li, Y. & Gravel, S. Assumptions about frequency-dependent architectures of complex traits bias measures of functional enrichment. Genet. Epidemiol. 45, 621632 (2021).
Article CAS PubMed Google Scholar
Frei, O. et al. Bivariate causal mixture model quantifies polygenic overlap between complex traits beyond genetic correlation. Nat. Commun. 10, 2417 (2019).
Article PubMed PubMed Central Google Scholar
Holland, D. et al. Beyond SNP heritability: polygenicity and discoverability of phenotypes estimated with a univariate Gaussian mixture model. PLoS Genet. 16, e1008612 (2020).
Article CAS PubMed PubMed Central Google Scholar
Shadrin, A. A. et al. Phenotype-specific differences in polygenicity and effect size distribution across functional annotation categories revealed by AI-MiXeR. Bioinformatics 36, 47494756 (2020).
Article CAS PubMed PubMed Central Google Scholar
Holland, D. et al. The genetic architecture of human complex phenotypes is modulated by linkage disequilibrium and heterozygosity. Genetics 217, iyaa046 (2021).
Article PubMed PubMed Central Google Scholar
Kingma, D.P. & Ba, J. L. Adam: a method for stochastic optimization. arXiv (2014).
Chen, J. et al. The trans-ancestral genomic architecture of glycemic traits. Nat. Genet. 53, 840860 (2021).
Article CAS PubMed PubMed Central Google Scholar
Clarke, T. K. et al. Genome-wide association study of alcohol consumption and genetic overlap with other health-related traits in UK Biobank (N=112117). Mol. Psychiatry 22, 13761384 (2017).
Article CAS PubMed PubMed Central Google Scholar
de Lange, K. M. et al. Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. Nat. Genet. 49, 256261 (2017).
Article PubMed PubMed Central Google Scholar
Evangelou, E. et al. Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. Nat. Genet. 50, 14121425 (2018).
Article CAS PubMed PubMed Central Google Scholar
Hautakangas, H. et al. Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles. Nat. Genet. 54, 152160 (2022).
Article CAS PubMed PubMed Central Google Scholar
Mahajan, A. et al. Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. Nat. Genet. 50, 15051513 (2018).
Article CAS PubMed PubMed Central Google Scholar
Mishra, A. et al. Stroke genetics informs drug discovery and risk prediction across ancestries. Nature 611, 115123 (2022).
Article CAS PubMed PubMed Central Google Scholar
Okbay, A. et al. Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals. Nat. Genet. 54, 437449 (2022).
Article CAS PubMed PubMed Central Google Scholar
Savage, J. E. et al. Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. Nat. Genet. 50, 912919 (2018).
Article CAS PubMed PubMed Central Google Scholar
Shah, S. et al. Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure. Nat. Commun. 11, 163 (2020).
Article CAS PubMed PubMed Central Google Scholar
The, C.-H.G.I. The COVID-19 Host Genetics Initiative, a global initiative to elucidate the role of host genetic factors in susceptibility and severity of the SARS-CoV-2 virus pandemic. Eur. J. Hum. Genet. 28, 715718 (2020).
Article Google Scholar
Watanabe, K. et al. A global overview of pleiotropy and genetic architecture in complex traits. Nat. Genet. 51, 13391348 (2019).
Article CAS PubMed Google Scholar
Wightman, D. P. et al. A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimers disease. Nat. Genet. 53, 12761282 (2021).
Article CAS PubMed PubMed Central Google Scholar
Wuttke, M. et al. A catalog of genetic loci associated with kidney function from analyses of a million individuals. Nat. Genet. 51, 957972 (2019).
Article CAS PubMed PubMed Central Google Scholar
Yengo, L. et al. Meta-analysis of genome-wide association studies for height and body mass index in ~ 700000 individuals of European ancestry. Hum. Mol. Genet. 27, 36413649 (2018).
Article CAS PubMed PubMed Central Google Scholar
Smeland, O. B., Frei, O., Dale, A. M. & Andreassen, O. A. The polygenic architecture of schizophreniarethinking pathogenesis and nosology. Nat. Rev. Neurol. 16, 366379 (2020).
Article PubMed Google Scholar
Nakazawa, K. et al. GABAergic interneuron origin of schizophrenia pathophysiology. Neuropharmacology 62, 15741583 (2012).
Article CAS PubMed Google Scholar
Stedehouder, J. & Kushner, S. A. Myelination of parvalbumin interneurons: a parsimonious locus of pathophysiological convergence in schizophrenia. Mol. Psychiatry 22, 412 (2017).
Article CAS PubMed Google Scholar
Berrandou, T.-E., Balding, D. & Speed, D. LDAK-GBAT: fast and powerful gene-based association testing using summary statistics. Am. J. Hum. Genet. 110, 2329 (2023).
Article CAS PubMed Google Scholar
Gazal, S. et al. Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection. Nat. Genet. 49, 14211427 (2017).
Article CAS PubMed PubMed Central Google Scholar
Moon, A. L., Haan, N., Wilkinson, L. S., Thomas, K. L. & Hall, J. CACNA1C: association with psychiatric disorders, behavior, and neurogenesis. Schizophr. Bull. 44, 958965 (2018).
Article PubMed PubMed Central Google Scholar
Singh, T. et al. Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature 604, 509516 (2022).
Article CAS PubMed PubMed Central Google Scholar
Howes, O. D. & Kapur, S. The dopamine hypothesis of schizophrenia: version IIIthe final common pathway. Schizophr. Bull. 35, 549562 (2009).
Article PubMed PubMed Central Google Scholar
Fusar-Poli, P. & Meyer-Lindenberg, A. Striatal presynaptic dopamine in schizophrenia, part II: meta-analysis of [18F/11C]-DOPA PET studies. Schizophr. Bull. 39, 3342 (2013).
Article PubMed Google Scholar
Huhn, M. et al. Comparative efficacy and tolerability of 32 oral antipsychotics for the acute treatment of adults with multi-episode schizophrenia: a systematic review and network meta-analysis. Lancet 394, 939951 (2019).
Article CAS PubMed PubMed Central Google Scholar
Harrison, P. J. Schizophrenia susceptibility genes and neurodevelopment. Biol. Psychiatry 61, 11191120 (2007).
Article PubMed Google Scholar
Burch, K. S. et al. Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes. Am. J. Hum. Genet. 109, 692709 (2022).
Article CAS PubMed PubMed Central Google Scholar
Yao, D. W., OConnor, L. J., Price, A. L. & Gusev, A. Quantifying genetic effects on disease mediated by assayed gene expression levels. Nat. Genet. 52, 626633 (2020).
Article CAS PubMed PubMed Central Google Scholar
Siewert-Rocks, K. M., Kim, S. S., Yao, D. W., Shi, H. & Price, A. L. Leveraging gene co-regulation to identify gene sets enriched for disease heritability. Am. J. Hum. Genet. 109, 393404 (2022).
Article CAS PubMed PubMed Central Google Scholar
Gusev, A. et al. Integrative approaches for large-scale transcriptome-wide association studies. Nat. Genet. 48, 245252 (2016).
Article CAS PubMed PubMed Central Google Scholar
Zhu, X. & Stephens, M. Large-scale genome-wide enrichment analyses identify new trait-associated genes and pathways across 31 human phenotypes. Nat. Commun. 9, 4361 (2018).
Article PubMed PubMed Central Google Scholar
- Genetics colloquium: Chris Hittinger on the genomic making of metabolic niche breadth Sep. 11 - University of WisconsinMadison - September 15th, 2024 [September 15th, 2024]
- NIH Recognizes Yales Expertise in the Genetics of Rare Diseases - Yale School of Medicine - September 15th, 2024 [September 15th, 2024]
- SOPHiA GENETICS and AstraZeneca Collaborate to Further Expand Global Access to Liquid Biopsy Testing - PR Newswire - September 15th, 2024 [September 15th, 2024]
- Medicines race dilemma: What science says about genetics and health [PODCAST] - Kevin MD - September 15th, 2024 [September 15th, 2024]
- Researchers want to unlock genetics of the worlds tiniest animals - Popular Science - September 15th, 2024 [September 15th, 2024]
- Sophia Genetics and AstraZeneca collaborate to expand liquid biopsy test rollout - Medical Device Network - September 15th, 2024 [September 15th, 2024]
- From farm to future: Technology in genetics - National Hog Farmer - September 2nd, 2024 [September 2nd, 2024]
- Editorial: Plant biotechnology and genetics for sustainable agriculture and global food security - Frontiers - September 2nd, 2024 [September 2nd, 2024]
- NSF Grant Brings Genetics Opportunities to Students in Alabama - Government Technology - September 2nd, 2024 [September 2nd, 2024]
- SBUs Ben Luft brings Lyme expertise to seminal paper on bacterial genetics and evolution - TBR News Media - September 2nd, 2024 [September 2nd, 2024]
- SOPHiA GENETICS to Present at the 22nd Annual Morgan Stanley Healthcare Conference and 9th Annual TD Cowen FutureHealth Conference - PR Newswire - September 2nd, 2024 [September 2nd, 2024]
- Singapores National Precision Medicine (NPM) Programme Engages Oxford Nanopore to Advance Understanding of the Genetics of Singapores Multi-Ethnic... - August 5th, 2024 [August 5th, 2024]
- Fulgent Genetics Second Quarter 2024 Earnings: Beats Expectations - Yahoo Finance - August 5th, 2024 [August 5th, 2024]
- Stopped clinical trials give evidence for the value of genetics - Nature.com - August 5th, 2024 [August 5th, 2024]
- What is DSD? Sex genetics and Olympic boxing controversy - Washington Examiner - August 5th, 2024 [August 5th, 2024]
- Fulgent Genetics Q2: Core Revenue Grows, but Profitability Is Still an Issue - The Motley Fool - August 5th, 2024 [August 5th, 2024]
- Viewpoint: Challenging yet another scientifically silly article claiming Black domination of sprinting and long distance running has nothing to do... - August 5th, 2024 [August 5th, 2024]
- Texas Company Trying To Resurrect Woolly Mammoths To Improve Genetics Of Bison - Cowboy State Daily - August 5th, 2024 [August 5th, 2024]
- Genetics confirms Berbers reached North Africa over 20,000 years ago; Arabs came in 7th Century CE - Down To Earth Magazine - August 5th, 2024 [August 5th, 2024]
- Unlocking plant genetics with telomere-to-telomere genome assemblies - Nature.com - July 26th, 2024 [July 26th, 2024]
- Carlo Ancelotti claims Jude Bellingham's 'genetics' are main reason behind Real Madrid & England superstar's meteoric rise to the top - Goal.com - July 26th, 2024 [July 26th, 2024]
- Genetics-based modeling estimates Idaho's wolf population was 1,150 in summer 2023 - Idaho Fish and Game - July 26th, 2024 [July 26th, 2024]
- Lung Cancer Research Foundation Joins Lung Cancer Advocacy Organizations and 23andMe to Launch Lung Cancer Genetics Study to Advance Research - PR... - July 26th, 2024 [July 26th, 2024]
- Fulgent Genetics (FLGT) Scheduled to Post Earnings on Friday - Defense World - July 26th, 2024 [July 26th, 2024]
- SOPHIA GENETICS Announces Expanded Relationship with Canada-Based OncoHelix - Financial Times - July 26th, 2024 [July 26th, 2024]
- LG Household & Health Care publishes research into the genetics of skin tone - GlobalCosmeticsNews - July 26th, 2024 [July 26th, 2024]
- Estonians gave their DNA to science now they're learning their genetic secrets - Nature.com - June 27th, 2024 [June 27th, 2024]
- Genetic clues to depression revealed in large study - PsyPost - June 27th, 2024 [June 27th, 2024]
- Move Over, Genghis Khan. Many Other Men Left Huge Genetic Legacies - Smithsonian Magazine - June 27th, 2024 [June 27th, 2024]
- 3X4 Genetics Selected as Partner for Preeminent Cancer Research and Treatment Nonprofit, The Metabolic Terrain ... - BioSpace - June 27th, 2024 [June 27th, 2024]
- NIFA Invests $6M in Animal Breeding, Genetics and Genomics | NIFA - National Institute of Food and Agriculture - June 27th, 2024 [June 27th, 2024]
- Arbel Harpak: Pursuing the Next Frontier in Genetics | Dell Medical School - Dell Medical School - June 27th, 2024 [June 27th, 2024]
- Coffee habits are partly linked to genetics, UC San Diego researchers say - NBC San Diego - June 27th, 2024 [June 27th, 2024]
- Advanced genetic tools help researchers ID new neurodevelopmental syndrome - Yale News - June 27th, 2024 [June 27th, 2024]
- Nutritious diet may protect against type 2 diabetes, regardless of genetics - News-Medical.Net - June 27th, 2024 [June 27th, 2024]
- Genome-wide association study identifies host genetic variants influencing oral microbiota diversity and metabolic ... - Nature.com - June 27th, 2024 [June 27th, 2024]
- Unlock the Secrets of Your DNA with Advanced Genetic Testing - North Forty News - June 27th, 2024 [June 27th, 2024]
- Modern and precise: Using gene editing to change the blueprint of an organism - Beef Magazine - June 27th, 2024 [June 27th, 2024]
- The 'gene deserts' unravelling the mysteries of disease - BBC.com - June 27th, 2024 [June 27th, 2024]
- UGA plant geneticists are tackling the climate crisis - Longview News-Journal - June 27th, 2024 [June 27th, 2024]
- Genetic Tests for Predicting Clopidogrel Response Gain Traction: AHA - TCTMD - June 27th, 2024 [June 27th, 2024]
- Bringing Gene Therapy to the Brain - The Scientist - June 27th, 2024 [June 27th, 2024]
- The importance of the paradise fish in evolutionary and behavioral genetics research - Phys.org - June 9th, 2024 [June 9th, 2024]
- What Is Fulgent Genetics, Inc.'s (NASDAQ:FLGT) Share Price Doing? - Yahoo Finance - June 9th, 2024 [June 9th, 2024]
- UW initiative aims to bring together social sciences and genetics - Wisbusiness.com - June 9th, 2024 [June 9th, 2024]
- Women have a higher genetic risk for PTSD, according to study by VCU and Swedish researchers - VCU News - June 9th, 2024 [June 9th, 2024]
- Genetics study points to potential treatments for restless leg syndrome - University of Cambridge news - June 9th, 2024 [June 9th, 2024]
- deCODE genetics: The rate, nature and transmission of mitochondrial DNA mutations in humans - PR Newswire - June 9th, 2024 [June 9th, 2024]
- Genetic association mapping leveraging Gaussian processes | Journal of Human Genetics - Nature.com - June 9th, 2024 [June 9th, 2024]
- Minimally destructive hDNA extraction method for retrospective genetics of pinned historical Lepidoptera specimens ... - Nature.com - June 9th, 2024 [June 9th, 2024]
- Restless legs syndrome tied to 140 'hotspots' in the genome - Livescience.com - June 9th, 2024 [June 9th, 2024]
- Paired tumor-germline testing can enhance patient carewith guidance from genetics specialists - The Cancer Letter - June 9th, 2024 [June 9th, 2024]
- Genetic Risk Score Revolutionizes TNBC Prediction in Black Women - Targeted Oncology - June 9th, 2024 [June 9th, 2024]
- Gene variants and breast cancer risk in Black women - National Institutes of Health (NIH) (.gov) - June 9th, 2024 [June 9th, 2024]
- GSA-MiXeR: A powerful tool to improve our understanding of heritable traits and diseases - News-Medical.Net - June 9th, 2024 [June 9th, 2024]
- Understanding the effect genetics have on Alzheimer's - Buffalo News - June 9th, 2024 [June 9th, 2024]
- 'Fossil viruses' embedded in the human genome linked to psychiatric disorders - Livescience.com - June 9th, 2024 [June 9th, 2024]
- Louisiana Sports Hall of Fame Profile: Ardoin's genetics provided gift for writing, and his versatility made him legendary - crescentcitysports.com - June 9th, 2024 [June 9th, 2024]
- Genes Link Sleep Patterns to Autism and Bipolar Disorder - Neuroscience News - June 9th, 2024 [June 9th, 2024]
- Tilapia genetics: a comparative trial between two strains in Brazil - The Fish Site - June 1st, 2024 [June 1st, 2024]
- New genetic cause of intellectual disability potentially uncovered in 'junk DNA' - Livescience.com - June 1st, 2024 [June 1st, 2024]
- Scientists identify gene that could lead to resilient 'pixie' corn - College of Agriculture and Life Sciences - June 1st, 2024 [June 1st, 2024]
- Veritas Genetics at the forefront of genomic screening with new studies presented at the European Society of Human ... - PR Newswire - June 1st, 2024 [June 1st, 2024]
- Alzheimer's study suggests genetic cause of specific form of disease Harvard Gazette - Harvard Gazette - June 1st, 2024 [June 1st, 2024]
- Researchers Discover Genetic Underpinnings of Inherited Condition Often Misdiagnosed as Hypothyroidism - InventUM - University of Miami - June 1st, 2024 [June 1st, 2024]
- Too much or too little: The impact of protein dosage on development - EurekAlert - June 1st, 2024 [June 1st, 2024]
- Hussman Institute Celebrates National DNA Day with Frost Science Museum - InventUM - University of Miami - June 1st, 2024 [June 1st, 2024]
- International treaty agreed on handling genetics in patents - Research Professional News - June 1st, 2024 [June 1st, 2024]
- Nebraska team identifies new genetic defect impacting cattle morbidity and meat quality - Beef Magazine - June 1st, 2024 [June 1st, 2024]
- Exploring the wonders of molecular biology - Drug Target Review - June 1st, 2024 [June 1st, 2024]
- 30 Years After Genetic Discovery, Huntingtons Patients Still Waiting - BioSpace - June 1st, 2024 [June 1st, 2024]
- Arn Anderson Bron Breakker Has Got His Dads Genetics, Will Be A Big Star - eWrestlingNews - June 1st, 2024 [June 1st, 2024]
- Genetic research: possibilities and risks Exaudi - Exaudi - June 1st, 2024 [June 1st, 2024]
- Study shows effect of 'interaction' on epigenetic marking in... - Parkinson's News Today - June 1st, 2024 [June 1st, 2024]
- The same genetic mutations behind gorillas' small penises may hinder fertility in men - Livescience.com - May 24th, 2024 [May 24th, 2024]
- Genetics reveals surprising origin of the German cockroach - Cosmos - May 24th, 2024 [May 24th, 2024]
- Genetics Reveals The Mysterious Origins Of The Cockroach - Forbes - May 24th, 2024 [May 24th, 2024]
- Optimizing genetics to advance controlled environment agriculture - AgriLife Today - AgriLife Today - May 24th, 2024 [May 24th, 2024]
- Genetics help combat illegal movement of feral swine - The Wildlife Society - May 24th, 2024 [May 24th, 2024]
- Tracking the cellular and genetic roots of neuropsychiatric disease - Yale News - May 24th, 2024 [May 24th, 2024]