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Deconstructing the sources of genotype-phenotype associations in humans.

Young AI, Benonisdottir S, Przeworski M, Kong A.

Science. 2019 Sep 27;365(6460):1396-1400. doi: 10.1126/science.aax3710. Review.


Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation.

Sasani TA, Pedersen BS, Gao Z, Baird L, Przeworski M, Jorde LB, Quinlan AR.

Elife. 2019 Sep 24;8. pii: e46922. doi: 10.7554/eLife.46922.


Signatures of replication timing, recombination, and sex in the spectrum of rare variants on the human X chromosome and autosomes.

Agarwal I, Przeworski M.

Proc Natl Acad Sci U S A. 2019 Sep 3;116(36):17916-17924. doi: 10.1073/pnas.1900714116. Epub 2019 Aug 19.


Overlooked roles of DNA damage and maternal age in generating human germline mutations.

Gao Z, Moorjani P, Sasani TA, Pedersen BS, Quinlan AR, Jorde LB, Amster G, Przeworski M.

Proc Natl Acad Sci U S A. 2019 May 7;116(19):9491-9500. doi: 10.1073/pnas.1901259116. Epub 2019 Apr 24.


Measuring intolerance to mutation in human genetics.

Fuller ZL, Berg JJ, Mostafavi H, Sella G, Przeworski M.

Nat Genet. 2019 May;51(5):772-776. doi: 10.1038/s41588-019-0383-1. Epub 2019 Apr 8. Review.


Correction: The population genetics of human disease: The case of recessive, lethal mutations.

Amorim CEG, Gao Z, Baker Z, Diesel JF, Simons YB, Haque IS, Pickrell J, Przeworski M.

PLoS Genet. 2018 Jul 2;14(7):e1007499. doi: 10.1371/journal.pgen.1007499. eCollection 2018 Jul.


Natural selection interacts with recombination to shape the evolution of hybrid genomes.

Schumer M, Xu C, Powell DL, Durvasula A, Skov L, Holland C, Blazier JC, Sankararaman S, Andolfatto P, Rosenthal GG, Przeworski M.

Science. 2018 May 11;360(6389):656-660. doi: 10.1126/science.aar3684. Epub 2018 Apr 19.


The population genetics of human disease: The case of recessive, lethal mutations.

Amorim CEG, Gao Z, Baker Z, Diesel JF, Simons YB, Haque IS, Pickrell J, Przeworski M.

PLoS Genet. 2017 Sep 28;13(9):e1006915. doi: 10.1371/journal.pgen.1006915. eCollection 2017 Sep. Erratum in: PLoS Genet. 2018 Jul 2;14(7):e1007499.


Identifying genetic variants that affect viability in large cohorts.

Mostafavi H, Berisa T, Day FR, Perry JRB, Przeworski M, Pickrell JK.

PLoS Biol. 2017 Sep 5;15(9):e2002458. doi: 10.1371/journal.pbio.2002458. eCollection 2017 Sep.


Contrasting Determinants of Mutation Rates in Germline and Soma.

Chen C, Qi H, Shen Y, Pickrell J, Przeworski M.

Genetics. 2017 Sep;207(1):255-267. doi: 10.1534/genetics.117.1114. Epub 2017 Jul 21.


Repeated losses of PRDM9-directed recombination despite the conservation of PRDM9 across vertebrates.

Baker Z, Schumer M, Haba Y, Bashkirova L, Holland C, Rosenthal GG, Przeworski M.

Elife. 2017 Jun 6;6. pii: e24133. doi: 10.7554/eLife.24133.


Human Germline Mutation and the Erratic Evolutionary Clock.

Moorjani P, Gao Z, Przeworski M.

PLoS Biol. 2016 Oct 19;14(10):e2000744. doi: 10.1371/journal.pbio.2000744. eCollection 2016 Oct.


Variation in the molecular clock of primates.

Moorjani P, Amorim CE, Arndt PF, Przeworski M.

Proc Natl Acad Sci U S A. 2016 Sep 20;113(38):10607-12. doi: 10.1073/pnas.1600374113. Epub 2016 Sep 6.


A genetic method for dating ancient genomes provides a direct estimate of human generation interval in the last 45,000 years.

Moorjani P, Sankararaman S, Fu Q, Przeworski M, Patterson N, Reich D.

Proc Natl Acad Sci U S A. 2016 May 17;113(20):5652-7. doi: 10.1073/pnas.1514696113. Epub 2016 May 2.


Interpreting the Dependence of Mutation Rates on Age and Time.

Gao Z, Wyman MJ, Sella G, Przeworski M.

PLoS Biol. 2016 Jan 13;14(1):e1002355. doi: 10.1371/journal.pbio.1002355. eCollection 2016 Jan.


Variation in Rural African Gut Microbiota Is Strongly Correlated with Colonization by Entamoeba and Subsistence.

Morton ER, Lynch J, Froment A, Lafosse S, Heyer E, Przeworski M, Blekhman R, Ségurel L.

PLoS Genet. 2015 Nov 30;11(11):e1005658. doi: 10.1371/journal.pgen.1005658. eCollection 2015 Nov.


Stable recombination hotspots in birds.

Singhal S, Leffler EM, Sannareddy K, Turner I, Venn O, Hooper DM, Strand AI, Li Q, Raney B, Balakrishnan CN, Griffith SC, McVean G, Przeworski M.

Science. 2015 Nov 20;350(6263):928-32. doi: 10.1126/science.aad0843.


Evolutionary history inferred from the de novo assembly of a nonmodel organism, the blue-eyed black lemur.

Meyer WK, Venkat A, Kermany AR, van de Geijn B, Zhang S, Przeworski M.

Mol Ecol. 2015 Sep;24(17):4392-405. doi: 10.1111/mec.13327. Epub 2015 Aug 24.


Non-crossover gene conversions show strong GC bias and unexpected clustering in humans.

Williams AL, Genovese G, Dyer T, Altemose N, Truax K, Jun G, Patterson N, Myers SR, Curran JE, Duggirala R, Blangero J, Reich D, Przeworski M; T2D-GENES Consortium.

Elife. 2015 Mar 25;4. doi: 10.7554/eLife.04637.


An estimate of the average number of recessive lethal mutations carried by humans.

Gao Z, Waggoner D, Stephens M, Ober C, Przeworski M.

Genetics. 2015 Apr;199(4):1243-54. doi: 10.1534/genetics.114.173351. Epub 2015 Feb 18.


Footprints of ancient-balanced polymorphisms in genetic variation data from closely related species.

Gao Z, Przeworski M, Sella G.

Evolution. 2015 Feb;69(2):431-46. doi: 10.1111/evo.12567. Epub 2015 Jan 16.


Determinants of mutation rate variation in the human germline.

Ségurel L, Wyman MJ, Przeworski M.

Annu Rev Genomics Hum Genet. 2014;15:47-70. doi: 10.1146/annurev-genom-031714-125740. Epub 2014 Jun 5. Review.


TroX: a new method to learn about the genesis of aneuploidy from trisomic products of conception.

Kermany AR, Segurel L, Oliver TR, Przeworski M.

Bioinformatics. 2014 Jul 15;30(14):2035-42. doi: 10.1093/bioinformatics/btu159. Epub 2014 Mar 21.


Different selective pressures shape the evolution of Toll-like receptors in human and African great ape populations.

Quach H, Wilson D, Laval G, Patin E, Manry J, Guibert J, Barreiro LB, Nerrienet E, Verschoor E, Gessain A, Przeworski M, Quintana-Murci L.

Hum Mol Genet. 2013 Dec 1;22(23):4829-40. doi: 10.1093/hmg/ddt335. Epub 2013 Jul 12.


Ancestry runs deeper than blood: the evolutionary history of ABO points to cryptic variation of functional importance.

Ségurel L, Gao Z, Przeworski M.

Bioessays. 2013 Oct;35(10):862-7. doi: 10.1002/bies.201300030. Epub 2013 Jul 9.


The convergent evolution of blue iris pigmentation in primates took distinct molecular paths.

Meyer WK, Zhang S, Hayakawa S, Imai H, Przeworski M.

Am J Phys Anthropol. 2013 Jul;151(3):398-407. doi: 10.1002/ajpa.22280. Epub 2013 May 2.


Multiple instances of ancient balancing selection shared between humans and chimpanzees.

Leffler EM, Gao Z, Pfeifer S, Ségurel L, Auton A, Venn O, Bowden R, Bontrop R, Wall JD, Sella G, Donnelly P, McVean G, Przeworski M.

Science. 2013 Mar 29;339(6127):1578-82. doi: 10.1126/science.1234070. Epub 2013 Feb 14.


The ABO blood group is a trans-species polymorphism in primates.

Ségurel L, Thompson EE, Flutre T, Lovstad J, Venkat A, Margulis SW, Moyse J, Ross S, Gamble K, Sella G, Ober C, Przeworski M.

Proc Natl Acad Sci U S A. 2012 Nov 6;109(45):18493-8. doi: 10.1073/pnas.1210603109. Epub 2012 Oct 22. Erratum in: Proc Natl Acad Sci U S A. 2013 Apr 16;110(16):6607.


Revisiting an old riddle: what determines genetic diversity levels within species?

Leffler EM, Bullaughey K, Matute DR, Meyer WK, Ségurel L, Venkat A, Andolfatto P, Przeworski M.

PLoS Biol. 2012;10(9):e1001388. doi: 10.1371/journal.pbio.1001388. Epub 2012 Sep 11.


A fine-scale chimpanzee genetic map from population sequencing.

Auton A, Fledel-Alon A, Pfeifer S, Venn O, Ségurel L, Street T, Leffler EM, Bowden R, Aneas I, Broxholme J, Humburg P, Iqbal Z, Lunter G, Maller J, Hernandez RD, Melton C, Venkat A, Nobrega MA, Bontrop R, Myers S, Donnelly P, Przeworski M, McVean G.

Science. 2012 Apr 13;336(6078):193-8. doi: 10.1126/science.1216872. Epub 2012 Mar 15.


Evaluating the evidence for transmission distortion in human pedigrees.

Meyer WK, Arbeithuber B, Ober C, Ebner T, Tiemann-Boege I, Hudson RR, Przeworski M.

Genetics. 2012 May;191(1):215-32. doi: 10.1534/genetics.112.139576. Epub 2012 Feb 29.


The case of the fickle fingers: how the PRDM9 zinc finger protein specifies meiotic recombination hotspots in humans.

Ségurel L, Leffler EM, Przeworski M.

PLoS Biol. 2011 Dec;9(12):e1001211. doi: 10.1371/journal.pbio.1001211. Epub 2011 Dec 6. Review.


A population genetics-phylogenetics approach to inferring natural selection in coding sequences.

Wilson DJ, Hernandez RD, Andolfatto P, Przeworski M.

PLoS Genet. 2011 Dec;7(12):e1002395. doi: 10.1371/journal.pgen.1002395. Epub 2011 Dec 1.


Variation in human recombination rates and its genetic determinants.

Fledel-Alon A, Leffler EM, Guan Y, Stephens M, Coop G, Przeworski M.

PLoS One. 2011;6(6):e20321. doi: 10.1371/journal.pone.0020321. Epub 2011 Jun 17.


Classic selective sweeps were rare in recent human evolution.

Hernandez RD, Kelley JL, Elyashiv E, Melton SC, Auton A, McVean G; 1000 Genomes Project, Sella G, Przeworski M.

Science. 2011 Feb 18;331(6019):920-4. doi: 10.1126/science.1198878.


Genome-sequencing anniversary. The golden age of human population genetics.

Przeworski M.

Science. 2011 Feb 4;331(6017):547. doi: 10.1126/science.1202571. No abstract available.


Shifts in the intensity of purifying selection: an analysis of genome-wide polymorphism data from two closely related yeast species.

Elyashiv E, Bullaughey K, Sattath S, Rinott Y, Przeworski M, Sella G.

Genome Res. 2010 Nov;20(11):1558-73. doi: 10.1101/gr.108993.110. Epub 2010 Sep 4.


PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice.

Baudat F, Buard J, Grey C, Fledel-Alon A, Ober C, Przeworski M, Coop G, de Massy B.

Science. 2010 Feb 12;327(5967):836-40. doi: 10.1126/science.1183439. Epub 2009 Dec 31. Erratum in: Science. 2010 May 7;328(5979):690.


Broad-scale recombination patterns underlying proper disjunction in humans.

Fledel-Alon A, Wilson DJ, Broman K, Wen X, Ober C, Coop G, Przeworski M.

PLoS Genet. 2009 Sep;5(9):e1000658. doi: 10.1371/journal.pgen.1000658. Epub 2009 Sep 18.


Pervasive natural selection in the Drosophila genome?

Sella G, Petrov DA, Przeworski M, Andolfatto P.

PLoS Genet. 2009 Jun;5(6):e1000495. doi: 10.1371/journal.pgen.1000495. Epub 2009 Jun 5.


Learning about modes of speciation by computational approaches.

Becquet C, Przeworski M.

Evolution. 2009 Oct;63(10):2547-62. doi: 10.1111/j.1558-5646.2009.00662.x. Epub 2009 Feb 18.


Natural selection on genes that underlie human disease susceptibility.

Blekhman R, Man O, Herrmann L, Boyko AR, Indap A, Kosiol C, Bustamante CD, Teshima KM, Przeworski M.

Curr Biol. 2008 Jun 24;18(12):883-9. doi: 10.1016/j.cub.2008.04.074.


The timing of selection at the human FOXP2 gene.

Coop G, Bullaughey K, Luca F, Przeworski M.

Mol Biol Evol. 2008 Jul;25(7):1257-9. doi: 10.1093/molbev/msn091. Epub 2008 Apr 15.


High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans.

Coop G, Wen X, Ober C, Pritchard JK, Przeworski M.

Science. 2008 Mar 7;319(5868):1395-8. doi: 10.1126/science.1151851. Epub 2008 Jan 31.


No effect of recombination on the efficacy of natural selection in primates.

Bullaughey K, Przeworski M, Coop G.

Genome Res. 2008 Apr;18(4):544-54. doi: 10.1101/gr.071548.107. Epub 2008 Jan 16.


A new approach to estimate parameters of speciation models with application to apes.

Becquet C, Przeworski M.

Genome Res. 2007 Oct;17(10):1505-19. Epub 2007 Aug 21.


Genetic structure of chimpanzee populations.

Becquet C, Patterson N, Stone AC, Przeworski M, Reich D.

PLoS Genet. 2007 Apr 20;3(4):e66. Epub 2007 Mar 13.


Combining sperm typing and linkage disequilibrium analyses reveals differences in selective pressures or recombination rates across human populations.

Clark VJ, Ptak SE, Tiemann I, Qian Y, Coop G, Stone AC, Przeworski M, Arnheim N, Di Rienzo A.

Genetics. 2007 Feb;175(2):795-804. Epub 2006 Dec 6.


An evolutionary view of human recombination.

Coop G, Przeworski M.

Nat Rev Genet. 2007 Jan;8(1):23-34. Epub 2006 Dec 5. Review.


How reliable are empirical genomic scans for selective sweeps?

Teshima KM, Coop G, Przeworski M.

Genome Res. 2006 Jun;16(6):702-12. Epub 2006 May 10.

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