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The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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Finding the missing heritability of complex diseases

Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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Genome-wide association studies for complex traits: consensus, uncertainty and challenges

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Large recurrent microdeletions associated with schizophrenia.

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A genomic mutational constraint map using variation in 76,156 human genomes

Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., et al. (2024) · Nature

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Common variants conferring risk of schizophrenia

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Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature

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Uncovering the roles of rare variants in common disease through whole-genome sequencing

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Genetic Associations and EpidemiologyGenomics and Rare Diseases

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A structural variation reference for medical and population genetics

Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., et al. (2020) · Nature

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y.-F., Wang, Q., Krueger, B. J., et al. (2015) · Science

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Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

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Rare Variants Create Synthetic Genome-Wide Associations

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Whole-genome sequencing of patients with rare diseases in a national health system

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Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes

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HIV Research and TreatmentForensic and Genetic Research

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Drug development in the era of precision medicine

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Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

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Long-Range LD Can Confound Genome Scans in Admixed Populations

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ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

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Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

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Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions

Ombrello, M. J., Remmers, E. F., Sun, G., Freeman, A. F., Datta, S., Torabi-Parizi, P., Subramanian, N., Bunney, T. D., Baxendale, R. W., Martins, M. S., et al. (2012) · New England Journal of Medicine

Immunodeficiency and Autoimmune DisordersInflammasome and immune disorders

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Next generation disparities in human genomics: concerns and remedies

Need, A. C., & Goldstein, D. B. (2009) · Trends in Genetics

Race, Genetics, and SocietyGenetic Associations and Epidemiology

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Balancing Selection at the Prion Protein Gene Consistent with Prehistoric Kurulike Epidemics

Mead, S., Stumpf, M. P. H., Whitfield, J., Beck, J. A., Poulter, M., Campbell, T., Uphill, J. B., Goldstein, D., Alpers, M., Fisher, E. M. C., et al. (2003) · Science

Prion Diseases and Protein MisfoldingEvolution and Genetic Dynamics

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Discerning the ancestry of European Americans in genetic association studies

Price, A. L., Butler, J., Patterson, N., Capelli, C., Pascali, V. L., Scarnicci, F., Ruiz-Linares, A., Groop, L., Saetta, A. A., Korkolopoulou, P., et al. (2008) · PLoS Genetics

Forensic and Genetic ResearchGenetic Associations and Epidemiology

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De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Myers, C. T., McMahon, J. M., Schneider, A. L., Petrovski, S., Allen, A. S., Carvill, G. L., Zemel, M., Saykally, J. E., LaCroix, A. J., Heinzen, E. L., et al. (2016) · The American Journal of Human Genetics

Epilepsy research and treatmentGenomics and Rare Diseases

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