Cross-ancestry analysis identifies genes associated with obesity risk and protection
Dissecting the Reduced Penetrance of Putative Loss-of-Function Variants in Population-Scale Biobanks
Substantial role of rare inherited variation in individuals with developmental disorders
Genetic modifiers of rare variants in monogenic developmental disorder loci
Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity
Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
Examining the Role of Common Variants in Rare Neurodevelopmental Conditions
Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations
Whole-genome sequencing of half-a-million UK Biobank participants
Human deleterious mutation rate implies high fitness variance, with declining mean fitness compensated by rarer beneficial mutations of larger effect
From target discovery to clinical drug development with human genetics
Rare coding variants in schizophrenia-associated genes affect generalised cognition in the UK Biobank
Somatic mutations in human ageing: New insights from DNA sequencing and inherited mutations
The Vanishing Family: They all have a 50-50 chance of inheriting a cruel genetic mutation—which means disappearing into dementia in middle age. This is the story of what it’s like to live with those odds
Phenotypic effects of genetic variants associated with autism
South Asian medical cohorts reveal strong founder effects and high rates of homozygosity
Estimating the parental age effect on intelligence with controlling for confounding effects from genotypic differences
Molecular basis of FAAH-OUT-associated human pain insensitivity
DNA repair and anti-cancer mechanisms in the longest-living mammal: the bowhead whale
Predicting ExWAS findings from GWAS data: a shorter path to causal genes
Common and rare variant associations with latent traits underlying depression, bipolar disorder, and schizophrenia
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions
Large-scale exome sequence analysis identifies sex- and age-specific determinants of obesity
Heritability of de novo germline mutation reveals a contribution from paternal but not maternal genetic factors
Cell Tree Rings: the shape of somatic evolution as a human aging timer
Rare and common genetic determinants of metabolic individuality and their effects on human health
Accurate detection of shared genetic architecture from GWAS summary statistics in the small-sample context
Declining autozygosity over time: an exploration in over 1 million individuals from 3 diverse cohorts
Inferring disease architecture and predictive ability with LDpred2-auto
Influences of rare protein-coding genetic variants on the human plasma proteome in 50,829 UK Biobank participants
Developmental implications of genetic testing for physical indications
Genome-wide prediction of disease variants with a deep protein language model
Genomic health is dependent on population demographic history
Nationwide genomic biobank in Mexico unravels demographic history and complex trait architecture from 6,057 individuals
Polygenic architecture of rare coding variation across 400,000 exomes
Complex Traits and Candidate Genes: Estimation of Genetic Variance Components Across Modes of Inheritance
The impact of rare protein coding genetic variation on adult cognitive function
Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs
The female protective effect against autism spectrum disorder
Using genomics to fight extinction: Quantifying fitness of wild organisms from genomic data alone is a challenging frontier
The critically endangered vaquita is not doomed to extinction by inbreeding depression
Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases
The Contributions of Rare Inherited and Polygenic Risk to ASD in Multiplex Families
Exome-wide screening identifies novel rare risk variants for major depression disorder
Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain
Characterization of Arabian Peninsula whole exomes: exploring high inbreeding features
Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains
Genetic risk factors have a substantial impact on healthy life years
Life histories of myeloproliferative neoplasms inferred from phylogenies
Ultra-Rapid Nanopore Genome Sequencing in a Critical Care Setting
Rare Genetic Variants Correlate with Better Processing Speed
Rare schizophrenia risk variant burden is conserved in diverse human populations
Schizophrenia-associated somatic copy number variants from 12,834 cases reveal contribution to risk and recurrent, isoform-specific NRXN1 disruptions
Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population
Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1
The origins and functional effects of postzygotic mutations throughout the human lifespan
Familial risk and heritability of intellectual disability: a population-based cohort study in Sweden
CONGA: Copy number variation genotyping in ancient genomes and low-coverage sequencing data
A spectrum of recessiveness among Mendelian disease variants in UK Biobank
Fine-scale population structure and demographic history of British Pakistanis
The effect of inbreeding, body size and morphology on health in dog breeds
Deletion of Loss-of-Function-Intolerant Genes and Risk of 5 Psychiatric Disorders
Exploring the relationships between autozygosity, educational attainment, and cognitive ability in a contemporary, trans-ancestral American sample
Deep learning enables genetic analysis of the human thoracic aorta
Comparing Copy Number Variations in a Danish Case Cohort of Individuals With Psychiatric Disorders
The impact of rare germline variants on human somatic mutation processes
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care—Preliminary Report
Influences of rare copy number variation on human complex traits
Rare Variant Aggregation in 148,508 Exomes Identifies Genes Associated with Proxy Alzheimer’s Disease
Integrating de novo and inherited variants in over 42,607 autism cases identifies mutations in new moderate risk genes
How rare and common risk variation jointly affect liability for autism spectrum disorder
A general framework for identifying rare variant combinations in complex disorders
Extreme purifying selection against point mutations in the human genome
Rates of contributory de novo mutation in high and low-risk autism families
Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes
Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention deficit hyperactivity disorder
Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity
Finding genes that control body weight: DNA exome sequencing at scale reveals unknown human biology of adiposity
Exome sequencing in obsessive-compulsive disorder reveals a burden of rare damaging coding variants
Recovery of trait heritability from whole genome sequence data
Ultra-rare, rare, and common genetic variant analysis converge to implicate negative selection and neuronal processes in the aetiology of schizophrenia
Lack of transgenerational effects of ionizing radiation exposure from the Chernobyl accident
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
Structural variants in Chinese population and their impact on phenotypes, diseases and population adaptation
Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants
A cross-disorder dosage sensitivity map of the human genome
Protein-coding repeat polymorphisms strongly shape diverse human phenotypes
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
Long tracks of homozygosity predict the severity of alcohol use disorders in an American Indian population
Exome sequencing and analysis of 454,787 UK Biobank participants
Long read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
A broad exome study of the genetic architecture of asthma reveals novel patient subgroups
Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK Biobank
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait
Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia
Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia
Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome
Novel Ultra-Rare Exonic Variants Identified in a Founder Population Implicate Cadherins in Schizophrenia
Reconstructing the history of founder events using genome-wide patterns of allele sharing across individuals
Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses
Exome-wide association studies in general and long-lived populations identify genetic variants related to human age
Genomic analyses implicate noncoding de novo variants in congenital heart disease
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines
The burden of rare protein-truncating genetic variants on human lifespan
An integrated polygenic and clinical risk tool enhances coronary artery disease prediction
Sex-biased reduction in reproductive success drives selective constraint on human genes
Etiology of Autism Spectrum Disorders and Autistic Traits Over Time
Estimating the effect-size of gene dosage on cognitive ability across the coding genome
Inbreeding and Inbreeding Depression in Linebred Beef Cattle
Whole-genome sequencing of rare disease patients in a national healthcare system
Figure 6: The Contributions of Ultra-Rare PTVs [Protein-Truncating Variants] to Schizophrenia Risk. A: Genetic Architecture of Schizophrenia. Statistically-Significant Genetic Associations for Schizophrenia from the Most Recent GWAS, CNV, and Sequencing Studies Are Displayed. The In-Sample Odds Ratio Is Plotted against the Minor Allele Frequency in the General Population. The Color of Each Dot Corresponds to the Source of the Association, and the Size of the Dot to the Odds Ratio. The Shaded Area Represented the LOESS-Smoothed Lines of the Upper and Lower Bounds of the Point Estimates...Because Schizophrenia As a Trait Is under Strong Selection38–40, We Expect That URVs of Large Effect to Be Frequently de Novo or of Very Recent Origin and Contribute to Risk in Only a Fraction of Diagnosed Patients.
Extended Data Figure 2: GWAS Progress over Time. The Relationship of GWAS Associations to Sample-Size Is Shown in This Plot With Selected SCZ GWAS Meta-Analyses of the past 11 Years. The X-Axis Shows Number of Cases. The Y-Axis Shows the Number of Independent Loci Discovered With at Least One Genome-Wide Statistically-Significant Index SNP in the Discovery Meta-Analysis (eg. without Replication Data)...The Slope of ~4 Newly Discovered Loci per 1,000 Cases 2013–2019 Increased to a Slope of ~6 With the Latest Sample-Size Increase.
Rare Genetic Variants Associated With Sudden Cardiac Death in Adults
Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation
Germline burden of rare damaging variants negatively affects human healthspan and lifespan
Extreme inbreeding in a European ancestry sample from the contemporary UK population
Insights about variation in meiosis from 31,228 human sperm genomes
The Family That Feels Almost No Pain: An Italian clan’s curious insensitivity to pain has piqued the interest of geneticists seeking a new understanding of how to treat physical suffering
Symposium review: The genomic architecture of inbreeding: How homozygosity affects health and performance
Crowdfunded whole-genome sequencing of the celebrity cat Lil BUB identifies causal mutations for her osteopetrosis and polydactyly
Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity
Exome Sequencing of Finnish Isolates Enhances Rare-Variant Association Power
Whole-Genome Deep-Learning Analysis Identifies Contribution of Noncoding Mutations to Autism Risk
A Rare Mutation of β1-Adrenergic Receptor Affects Sleep/Wake Behaviors
Phenome-wide Burden of Copy-Number Variation in the UK Biobank
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals
Schizophrenia risk conferred by protein-coding de novo mutations
Pfizer Terminates Domagrozumab (PF-06252616) Clinical Studies for the Treatment of Duchenne Muscular Dystrophy
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
LY2495655, an antimyostatin antibody, in pancreatic cancer: a randomized, phase 2 trial
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Analysis of the genetic basis of height in large Jewish nuclear families
Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs
Relationships between estimated autozygosity and complex traits in the UK Biobank
An Analytical Framework for Whole-Genome Sequence Association Studies and Its Implications for Autism Spectrum Disorder
1 in 38 Individuals at Risk of a Dominant Medically Actionable Disease
Secondary Findings from Clinical Genomic Sequencing: Prevalence, Patient Perspectives, Family History Assessment, and Health-Care Costs from a Multisite Study
Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank
Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples
Singleton Variants Dominate the Genetic Architecture of Human Gene Expression
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits
Quantification of frequency-dependent genetic architectures and action of negative selection in 25 UK Biobank traits
A genome-wide association study for extremely high intelligence
The surprising implications of familial association in disease risk
Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum
Genomic analysis of family data reveals additional genetic effects on intelligence and personality
Prevalence and architecture of de novo mutations in developmental disorders
Excess of genomic defects in a woolly mammoth on Wrangel island
Parental Influence on Human Germline de Novo Mutations in 1,548 Trios from Iceland
Inequality in genetic cancer risk suggests bad genes rather than bad luck
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension
Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples
Extreme distribution of deleterious variation in a historically small and isolated population—insights from the Greenlandic Inuit
A Prospective Study of Sudden Cardiac Death among Children and Young Adults
Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects
Whole-Genome Sequencing of Quartet Families With Autism Spectrum Disorder
The Relative Contribution of Common and Rare Genetic Variants to ADHD
Complete genomes reveal signatures of demographic and genetic declines in the woolly mammoth
Directional dominance on stature and cognition in diverse human populations
Synaptic, transcriptional and chromatin genes disrupted in autism
Estimating the Inbreeding Depression on Cognitive Behavior: A Population Based Study of Child Cohort
A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans
Large-scale genomics unveils the genetic architecture of psychiatric disorders
The contribution of de novo coding mutations to autism spectrum disorder
The effect of paternal age on offspring intelligence and personality when controlling for paternal trait level
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
The incidence of leukemia, lymphoma and multiple myeloma among atomic bomb survivors: 1950–2001
Range of Genetic Mutations Associated With Severe Non-Syndromic Sporadic Intellectual Disability: an Exome Sequencing Study
CNVs: harbingers of a rare variant revolution in psychiatric genetics
Heritability of performance deficit accumulation during acute sleep deprivation in twins
Common Variants Show Predicted Polygenic Effects on Height in the Tails of the Distribution, Except in Extremely Short Individuals
Rare Copy Number Deletions Predict Individual Variation in Intelligence
Population-based carrier screening for cystic fibrosis in Victoria: The first 3 years experience
An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs.
The transcriptional repressor DEC2 regulates sleep length in mammals
The VNTR 2 repeat in MAOA and delinquent behavior in adolescence and young adulthood: associations and MAOA promoter activity
Language and communicative development in Williams syndrome
Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation
Self-management of fatal familial insomnia. Part 2: case report
Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
Study of 250 Children With Idiopathic Mental Retardation Reveals 9 Cryptic and Diverse Subtelomeric Chromosome Anomalies
Influence of five years of antenatal screening on the paediatric cystic fibrosis population in one region
An extended Family with a Dominantly Inherited Speech Disorder
Subtle Chromosomal Rearrangements in Children With Unexplained Mental Retardation
Whole-Genome Sequencing Analysis of Semi-Supercentenarians
Integration of Whole Genome Sequencing into a Healthcare Setting: High Diagnostic Rates across Multiple Clinical Entities in 3219 Rare Disease Patients Genome Medicine
Information Processing: Hints of Genomic Dark Matter: Rare Variants Contribute to Schizophrenia Risk
When Kim Goodsell Discovered That She Had Two Extremely Rare Genetic Diseases, She Taught Herself Genetics to Help Find out Why.
The Sports Gene: Inside the Science of Extraordinary Athletic Performance
Fathers Bequeath More Mutations As They Age: Genome Study May Explain Links between Paternal Age and Conditions such as Autism
Monkeys Genetically Modified to Show Autism Symptoms: But It Is Unclear How Well the Results Match the Condition in Humans
A Genome-Wide Analysis of Putative Functional and Exonic Variation Associated With Extremely High Intelligence
Scientists Implicate More Than 100 Genes In Causing Autism
What's Behind Many Mystery Ailments? Genetic Mutations, Study Finds
Why Do Humans Still Have a Gene That Increases the Risk of Alzheimer’s?
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The Vanishing Family: They all have a 50-50 chance of inheriting a cruel genetic mutation—which means disappearing into dementia in middle age. This is the story of what it’s like to live with those odds
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Rare and common genetic determinants of metabolic individuality and their effects on human health
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Using genomics to fight extinction: Quantifying fitness of wild organisms from genomic data alone is a challenging frontier
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Exome-wide screening identifies novel rare risk variants for major depression disorder
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Life histories of myeloproliferative neoplasms inferred from phylogenies
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Ultra-Rapid Nanopore Genome Sequencing in a Critical Care Setting
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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care—Preliminary Report
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Finding genes that control body weight: DNA exome sequencing at scale reveals unknown human biology of adiposity
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![Figure 6: The Contributions of Ultra-Rare PTVs [Protein-Truncating Variants] to Schizophrenia Risk. A: Genetic Architecture of Schizophrenia. Statistically-Significant Genetic Associations for Schizophrenia from the Most Recent GWAS, CNV, and Sequencing Studies Are Displayed. The In-Sample Odds Ratio Is Plotted against the Minor Allele Frequency in the General Population. The Color of Each Dot Corresponds to the Source of the Association, and the Size of the Dot to the Odds Ratio. The Shaded Area Represented the LOESS-Smoothed Lines of the Upper and Lower Bounds of the Point Estimates...Because Schizophrenia As a Trait Is under Strong Selection38–40, We Expect That URVs of Large Effect to Be Frequently de Novo or of Very Recent Origin and Contribute to Risk in Only a Fraction of Diagnosed Patients.](/doc/genetics/heritable/rare/2020-singh-figure6a-thecontributionsofultrarareptvstoschizophreniarisk.jpg){kind=link}
