A structural variation reference for medical and population genetics by Lander, Eric Steven

“…This SV resource is freely distributed via the gnomAD browser8 and will have broad utility in population genetics, disease-association studies, and diagnostic screening.…”
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Intersection of population variation and autoimmunity genetics in human T cell activation by Ye, C. J., Feng, T., Kwon, H.-K., Raj, T., Wilson, M. T., Asinovski, N., McCabe, C., Lee, M. H., Frohlich, I., Paik, H.-i., Zaitlen, N., Hacohen, N., Stranger, B., De Jager, P., Mathis, D., Benoist, C., Regev, Aviv

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Associations and dynamics of Vibrionaceae in the environment, from the genus to the population level by Chien, Diana M., Takemura, Alison Francesca, Polz, Martin F

“…Fine-scale sampling from the water column has enabled identification of such lifestyle preferences for ecologically cohesive populations, and future efforts will benefit from similar analysis at fine genetic and environmental sampling scales to describe the conditions, habitats, and resources shaping Vibrio dynamics.…”
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Ecosystem-specific selection pressures revealed through comparative population genomics by Chisholm, Sallie (Penny), Coleman, Maureen L

“…Bacterial populations harbor vast genetic diversity that is continually shaped by abiotic and biotic selective pressures, as well as by neutral processes. …”
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Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population by Altshuler, David

“…More generally, this study articulates substantial advantages for studying the role of rare variation in complex phenotypes in founder populations like the Finns and by combining a unique population genetic history with data from large population cohorts and centralized research access to National Health Registers.…”
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Determinants of Divergent Adaptation and Dobzhansky-Muller Interaction in Experimental Yeast Populations by Anderson, James B., Funt, Jason, Thompson, Dawn Anne, Prabhu, Snehit, Socha, Amanda, Sirjusingh, Caroline, Dettman, Jeremy R., Parreiras, Lucas, Guttman, David S., Regev, Aviv, Kohn, Linda M.

“…Here, whole-genome resequencing and comparative genome hybridization of representatives of three populations revealed 17 mutations, six of which explained the adaptive increases in mitotic fitness. …”
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Fundamental differences in diversity and genomic population structure between Atlantic and Pacific Prochlorococcus by Grinberg, Maor, Stepanauskas, Ramunas, Kashtan, Nadav, Roggensack, Sara, Thompson, Jessica Weidemier, Chisholm, Sallie (Penny)

“…We reveal fundamental differences in diversity and genomic structure of populations between the sites. The Pacific populations are more diverse than those in the Atlantic, composed of significantly more coexisting subpopulations and lacking dominant subpopulations. …”
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Stochastic State Transitions Give Rise to Phenotypic Equilibrium in Populations of Cancer Cells by Fillmore, Christine M., Jiang, Guozhi, Shapira, Sagi D., Tao, Kai, Kuperwasser, Charlotte, Gupta, Piyush, Lander, Eric Steven

“…Cancer cells within individual tumors often exist in distinct phenotypic states that differ in functional attributes. While cancer cell populations typically display distinctive equilibria in the proportion of cells in various states, the mechanisms by which this occurs are poorly understood. …”
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Anatomically and Functionally Distinct Lung Mesenchymal Populations Marked by Lgr5 and Lgr6 by Lee, Joo-Hyeon, Hofree, Matan, Choi, Jinwook, Han, Seungmin, Paschini, Margherita, Bhang, Dong Ha, Kim, Carla F., Tammela, Tuomas, Marjanovic, Nemanja, Canner, David Allen, Wu, Katherine, Jacks, Tyler E., Regev, Aviv

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FASTER MT: Isolation of Pure Populations of a and α Ascospores from Saccharomyces cerevisiae by Chin, Brian L., Frizzell, Margaret A., Timberlake, William E., Fink, Gerald R

“…Heterozygous diploids segregated fluorescent and nonfluorescent ascospores 2:2 in tetrads and bulk populations. The two populations of spores were separable by fluorescence-activated cell sorting with little cross contamination or contamination with diploid vegetative cells. …”
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Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae by Lowe, Jennifer K., Maller, Julian B., Pe'er, Itsik, Neale, Benjamin M., Salit, Jacqueline, Kenny, Eimear E., Shea, Jessica L., Burkhardt, Ralph, Smith, J. Gustav, Ji, Weizhen, Noel, Martha, Foo, Jia Nee, Blundell, Maude L., Skilling, Vita, Garcia, Laura, Sullivan, Marcia L., Lee, Heather E., Labek, Anna, Ferdowsian, Hope, Auerbach, Steven B., Lifton, Richard P., Newton-Cheh, Christopher, Breslow, Jan L., Stoffel, Markus, Daly, Mark J., Altshuler, David, Friedman, Jeffrey M.

“…It has been argued that the limited genetic diversity and reduced allelic heterogeneity observed in isolated founder populations facilitates discovery of loci contributing to both Mendelian and complex disease. …”
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Negative frequency‐dependent interactions can underlie phenotypic heterogeneity in a clonal microbial population by Axelrod, Kevin, Healey, David Wendell, Gore, Jeff

“…Genetically identical cells in microbial populations often exhibit a remarkable degree of phenotypic heterogeneity even in homogenous environments. …”
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Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia by Zekavat, Seyedeh M., Gabriel, Stacey, Lander, Eric Steven, Philippakis, Anthony A.

“…Purpose: Large-scale, population-based biobanks integrating health records and genomic profiles may provide a platform to identify individuals with disease-predisposing genetic variants. …”
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AZFc Deletions and Spermatogenic Failure: A Population-Based Survey of 20,000 Y Chromosomes by Rozen, Steven G., Marszalek, Janet D., Irenze, Kathryn, Skaletsky, Helen, Brown, Laura G., Oates, Robert D., Silber, Sherman J., Ardlie, Kristin, Page, David C

“…Six recurrent interstitial deletions affecting the region have been reported, but their population genetics are largely unexplored. We assessed the deletions’ prevalence in 20,884 men in five populations and found four of the six deletions (presented here in descending order of prevalence): gr/gr, b2/b3, b1/b3, and b2/b4. …”
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Integrin-β4 identifies cancer stem cell-enriched populations of partially mesenchymal carcinoma cells by Bierie, Brian, Pierce, Sarah E., Kroeger, Cornelia, Stover, Daniel G., Pattabiraman, Diwakar R., Thiru, Prathapan, Liu Donaher, Joana, Reinhardt, Ferenc, Chaffer, Christine L., Keckesova, Zuzana, Weinberg, Robert A

“…Hence, mesenchymal carcinoma cell populations are internally heterogeneous, and ITGB4 is a mechanistically driven prognostic biomarker that can be used to identify the more aggressive subtypes of mesenchymal carcinoma cells in TNBC. …”
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Epigenetic and conventional regulation is distributed among activat= allowing tuning of population-level heterogeneity in its expression by Octavio, Leah M., Gedeon, Kamil S., Maheshri, Narendra

“…Distributing kinetic control of epigenetic silencing and conventional gene activation offers cells flexibility in shaping the distribution of gene expression and phenotype within a population.…”
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Local Mobile Gene Pools Rapidly Cross Species Boundaries To Create within Global Vibrio cholerae Populations by Boucher, Yan, Takemura, Alison Francesca, Schliep, Klaus, Bapteste, Eric, Lopez, Philippe, Tarr, Cheryl L., Cordero Sanchez, Otto X., Hunt, Dana E., Ph. D. Massachusetts Institute of Technology, Polz, Martin F

“…However, although this implies dispersal and growth across diverse environmental conditions, how locally successful populations assemble from a possibly global gene pool, relatively unhindered by geographic boundaries, remains poorly understood. …”
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Single-Cell Analysis Reveals Functionally Distinct Classes within the Planarian Stem Cell Compartment by van Wolfswinkel, Josien C., Reddien, Peter, Wagner, Daniel E.

“…This capacity is mediated by neoblasts, a proliferative cell population that contains pluripotent stem cells. Although population-based studies have revealed many neoblast characteristics, whether functionally distinct classes exist within this population is unclear. …”
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Viral Packaging and Cell Culture for CRISPR-Based Screens by Wang, Tim, Lander, Eric Steven, Sabatini, David

“…Following antibiotic selection and a harvest of the initial population, cells are then cultured under the desired screening condition(s) for 14 population doublings. sgRNA barcode sequences integrated in the genomic DNA of each cell population are amplified and subject to high-throughput sequencing. …”
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Mex3a Marks a Slowly Dividing Subpopulation of Lgr5+ Intestinal Stem Cells by Barriga, Francisco M., Montagni, Elisa, Mendez-Lago, Maria, Hernando-Momblona, Xavier, Sevillano, Marta, Guillaumet-Adkins, Amy, Rodriguez-Esteban, Gustavo, Buczacki, Simon J.A., Gut, Marta, Heyn, Holger, Winton, Douglas J., Attolini, Camille Stephan-Otto, Gut, Ivo, Batlle, Eduard, Mana, Miyeko, Yilmaz, Omer

“…Although quiescent intestinal stem cell (ISC) populations have been described, the identity and features of such a population remain controversial. …”
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