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1. Full Text Current clinical use of polygenic scores will risk exacerbating health disparities
by Martin, Alicia R and Kanai, Masahiro and Kamatani, Yoichiro and Okada, Yukinori and Neale, Benjamin M and Daly, Mark J
Nature genetics, ISSN 1061-4036, 4/2019, Volume 51, Issue 4, pp. 584 - 591
Polygenic risk scores (PRS) are poised to improve biomedical outcomes via precision medicine. However, the major ethical and scientific challenge surrounding... 
population genetics | diversity | health disparities | statistical genetics | genetic risk prediction | polygenic risk scores
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2. Full Text Distance from sub-Saharan Africa predicts mutational load in diverse human genomes
by Brenna M. Henn and Laura R. Botigué and Stephan Peischl and Isabelle Dupanloup and Mikhail Lipatov and Brian K. Maples and Alicia R. Martin and Shaila Musharoff and Howard Cann and Michael P. Snyder and Laurent Excoffier and Jeffrey M. Kidd and Carlos D. Bustamante
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 1/2016, Volume 113, Issue 4, pp. E440 - E449
The Out-of-Africa (OOA) dispersal ∼50,000 y ago is characterized by a series of founder events as modern humans expanded into multiple continents. Population... 
Mutation | Founder effect | Range expansion | Purifying selection | Expansion load | CLASSIC SELECTIVE SWEEPS | range expansion | founder effect | HUMAN-EVOLUTION | CODING VARIATION | MULTIDISCIPLINARY SCIENCES | EXOMES REVEALS | mutation | purifying selection | POSITIVE SELECTION | RANGE EXPANSIONS | expansion load | DISEASE | DELETERIOUS GENETIC-VARIATION | HUMAN-POPULATIONS | HISTORY | Genetic Drift | Gene Flow | Humans | Asian Continental Ancestry Group - genetics | Genetic Diseases, Inborn - genetics | Selection, Genetic | Africa South of the Sahara | Genotype | Founder Effect | Animals | Ethnic Groups - genetics | Indians, Central American - genetics | Computer Simulation | Alleles | Conserved Sequence | Homing Behavior | Models, Genetic | African Continental Ancestry Group - genetics | Genome, Human | Human Migration | Evolution, Molecular | Genetic research | Research | Gene mutations | Population genetics | Genomes | Dispersal | Genomics | Biological Sciences | PNAS Plus
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3. Full Text Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
by Martin, Alicia R and Gignoux, Christopher R and Walters, Raymond K and Wojcik, Genevieve L and Neale, Benjamin M and Gravel, Simon and Daly, Mark J and Bustamante, Carlos D and Kenny, Eimear E
The American Journal of Human Genetics, ISSN 0002-9297, 04/2017, Volume 100, Issue 4, pp. 635 - 649
The vast majority of genome-wide association studies (GWASs) are performed in Europeans, and their transferability to other populations is dependent on many... 
population genetics | complex trait genetics | summary statistics | GWAS | 1000 Genomes Project | local ancestry | admixed populations | statistical genetics | polygenic risk scores | BREAST-CANCER | TYPE-2 DIABETES SUSCEPTIBILITY | AFRICAN-ANCESTRY | POSITIVE SELECTION | INCREASES ACCURACY | CODING VARIATION | GENETICS & HEREDITY | HISPANIC/LATINO POPULATIONS | GENOME-WIDE ASSOCIATION | LOCAL-ANCESTRY | POLYGENIC INHERITANCE
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4. Full Text A global reference for human genetic variation
by Altshuler, D.M and Albers, C.A and Abecasis, G.R and et al and Genomes Project Consortium and 1000 Genomes Project Consortium and The 1000 Genomes Project Consortium
Nature, ISSN 0028-0836, 2015, Volume 526, Issue 7571, pp. 68 - 74
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set... 
BAYES FACTORS | INDIVIDUALS | COMPLEMENT FACTOR-H | POPULATION HISTORY | MULTIDISCIPLINARY SCIENCES | MUTATION | DISEASE | SUSCEPTIBILITY | MACULAR DEGENERATION | VARIANT | GENOME-WIDE ASSOCIATION | Rare Diseases - genetics | Genome-Wide Association Study | Datasets as Topic | Demography | Disease Susceptibility | Physical Chromosome Mapping | Humans | Genetics, Population - standards | Genomics - standards | Genotype | INDEL Mutation - genetics | Sequence Analysis, DNA | Genome, Human - genetics | Haplotypes - genetics | Exome - genetics | Reference Standards | Genetics, Medical | Internationality | Polymorphism, Single Nucleotide - genetics | Genetic Variation - genetics | High-Throughput Nucleotide Sequencing | Quantitative Trait Loci - genetics | Genetic research | Nucleotide sequencing | Observations | Genetic variation | Methods | DNA sequencing | Studies | Haplotypes | Genotype & phenotype | Accuracy | Genealogy | Population | Genomes | Genetic diversity | Mitochondrial DNA | Binding sites
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5. Full Text Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder
by Demontis, Ditte and Walters, Raymond K and Martin, Joanna and Mattheisen, Manuel and Als, Thomas D and Agerbo, Esben and Baldursson, Gísli and Belliveau, Rich and Bybjerg-Grauholm, Jonas and Bækvad-Hansen, Marie and Cerrato, Felecia and Chambert, Kimberly and Churchhouse, Claire and Dumont, Ashley and Eriksson, Nicholas and Gandal, Michael and Goldstein, Jacqueline I and Grasby, Katrina L and Grove, Jakob and Gudmundsson, Olafur O and Hansen, Christine S and Hauberg, Mads Engel and Hollegaard, Mads V and Howrigan, Daniel P and Huang, Hailiang and Maller, Julian B and Martin, Alicia R and Martin, Nicholas G and Moran, Jennifer and Pallesen, Jonatan and Palmer, Duncan S and Pedersen, Carsten Bøcker and Pedersen, Marianne Giørtz and Poterba, Timothy and Poulsen, Jesper Buchhave and Ripke, Stephan and Robinson, Elise B and Satterstrom, F. Kyle and Stefansson, Hreinn and Stevens, Christine and Turley, Patrick and Walters, G. Bragi and Won, Hyejung and Wright, Margaret J and Albayrak, Özgür and Anney, Richard J. L and Arranz, Maria Jesús and Banaschewski, Tobias J and Bau, Claiton and Biederman, Joseph and Buitelaar, Jan K and Casas, Miguel and Charach, Alice and Crosbie, Jennifer and Dempfle, Astrid and Doyle, Alysa E and Ebstein, Richard P and Elia, Josephine and Freitag, Christine and Föcker, Manuel and Gill, Michael and Grevet, Eugenio and Hawi, Ziarih and Hebebrand, Johannes and Herpertz-Dahlmann, Beate and Hervas, Amaia and Hinney, Anke and Hohmann, Sarah and Holmans, Peter and Hutz, Mara and Ickowitz, Abel and Johansson, Stefan and Kent, Lindsey and Kittel-Schneider, Sarah and Lambregts-Rommelse, Nanda and Lehmkuhl, Gerd and Loo, Sandra K and McGough, James J and Meyer, Jobst and Mick, Eric and Middletion, Frank and Miranda, Ana and Mota, Nina Roth and Mulas, Fernando and Mulligan, Aisling and Nelson, Freimer and Nguyen, T. Trang and Oades, Robert D and O’Donovan, Michael C and Owen, Michael J and Palmason, Haukur and Ramos-Quiroga, Josep Antoni and Renner, Tobias J and Ribasés, Marta and Rietschel, Marcella and Rivero, Olga and Romanos, Jasmin and Romanos, Marcel and Rothenberger, Aribert and Royers, Herbert and ... and Early Lifecourse Genetic and ADHD Working Grp Psychiat Genomics and 23andMe Res Team and Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium and 23andMe Research Team and ADHD Working Group of the Psychiatric Genomics Consortium (PGC)
Nature Genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 63 - 75
Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral disorder affecting 5% of children and 2.5% of adults. Common genetic... 
PROVIDES INSIGHTS | IDENTIFIES 11 | DEFICIT HYPERACTIVITY DISORDER | ASSOCIATION METAANALYSIS | GENETICS & HEREDITY | SEXUAL-BEHAVIOR | GENETIC ARCHITECTURE | MAJOR DEPRESSION | LD SCORE REGRESSION | US CHILDREN | POLYGENIC RISK | Genetic Predisposition to Disease - genetics | Gene Expression Regulation - genetics | Humans | Genetic Loci - genetics | Child, Preschool | Male | Risk | Brain - physiology | Attention Deficit Disorder with Hyperactivity - genetics | Adolescent | Polymorphism, Single Nucleotide - genetics | Female | Genome-Wide Association Study - methods | Child | Cohort Studies | Genome-wide association studies | Usage | Genetic variation | Attention-deficit hyperactivity disorder | Genetic aspects | Diagnosis | Research | Attention deficit disorder | Brain | Hyperactivity | Attention deficit hyperactivity disorder | Principal components analysis | Genomes | Loci | Meta-analysis | Consortia | Genetic variance | Genotype & phenotype | Brain research | Quality control | Population | Adults | Children | Psychiatry
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6. Full Text Genetic Control of Chromatin States in Humans Involves Local and Distal Chromosomal Interactions
by Grubert, Fabian and Zaugg, Judith B and Kasowski, Maya and Ursu, Oana and Spacek, Damek V and Martin, Alicia R and Greenside, Peyton and Srivas, Rohith and Phanstiel, Doug H and Pekowska, Aleksandra and Heidari, Nastaran and Euskirchen, Ghia and Huber, Wolfgang and Pritchard, Jonathan K and Bustamante, Carlos D and Steinmetz, Lars M and Kundaje, Anshul and Snyder, Michael
Cell, ISSN 0092-8674, 08/2015, Volume 162, Issue 5, pp. 1051 - 1065
Deciphering the impact of genetic variants on gene regulation is fundamental to understanding human disease. Although gene regulation often involves long-range... 
LONG-RANGE INTERACTION | HUMAN GENOME | METAANALYSIS | CROHNS-DISEASE | VARIANTS | ALZHEIMERS-DISEASE | HUMAN-CELLS | DNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | TRANSCRIPTION | SUSCEPTIBILITY LOCI | CELL BIOLOGY | Lymphocytes - metabolism | Cell Line | Chromatin - metabolism | Genome-Wide Association Study | Humans | Male | Chromosomes, Human - metabolism | Gene Regulatory Networks | Chromosomes, Human - chemistry | Regulatory Elements, Transcriptional | Female | Histones - metabolism | Quantitative Trait Loci | Human Genome Project | Cohort Studies | Quantitative genetics | Genetic research | Chromatin | Analysis | Genomics | Medical colleges | Genes
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