Publications

Kirk’s Google Scholar Profile  

2017

Kim BY, Huber CD, Lohmueller KE. Inference of the Distribution of Selection Coefficients for New Nonsynonymous Mutations Using Large Samples. Genetics 2017; 206(1):345-361. 

Huber CD, Kim BY, Marsden CD, Lohmueller KEDetermining the factors driving selective effects of new nonsynonymous mutations. Proc Natl Acad Sci U S A. 2017; 114(17):4465-4470.

Pedersen CT, Lohmueller KE, Grarup N, Bjerregaard P, Hansen T, Siegismund HR, Moltke I, Albrechtsen A. The Effect of an Extreme and Prolonged Population Bottleneck on Patterns of Deleterious Variation: Insights from the Greenlandic Inuit. Genetics 2017; 205(2):787-801.

2016

Phung TN, Huber CD, Lohmueller KE. Determining the effect of natural selection on linked neutral divergence across species, PLoS Genetics 2016; 12: e1006199.

Ortega-Del Vecchyo D, Marsden CD, Lohmueller KEPReFerSim: Fast simulation of demography and selection under the Poisson Random Field model. Bioinformatics. 2016 Jul 19.

Robinson JA, Ortega-Del Vecchyo D, Fan Z, Kim BY, vonHoldt BM, Marsden CD, Lohmueller KE*, Wayne RK*. Genomic flatlining in the endangered island foxCurr Biol. 2016 May 9;26(9):1183-9. (*Contributed equally).

Marsden CD, Rudin N, Inman K, Lohmueller KE. An assessment of the information content of likelihood ratios derived from complex mixtures. Forensic Sci Int Genet. 2016 May;22:64-72.

Haned H, Gill P, Lohmueller K, Inman K, Rudin N. Validation of probabilistic genotyping software for use in forensic DNA casework: Definitions and illustrationsSci Justice. 2016 Mar;56(2):104-8.

Marsden CD, Ortega-Del Vecchyo D, O'Brien DP, Taylor JF, Ramirez O, Vilà C, Marques-Bonet T, Schnabel RD, Wayne RK, Lohmueller KEBottlenecks and selective sweeps during domestication have increased deleterious genetic variation in dogs. Proc Natl Acad Sci U S A. 2016 Jan 5;113(1):152-7.

2015

Inman K, Rudin N, Cheng K, Robinson C, Kirschner A, Inman-Semerau L, Lohmueller KE. Lab Retriever: a software tool for calculating likelihood ratios incorporating a probability of drop-out for forensic DNA profilesBMC Bioinformatics. 2015 Sep 18;16:298.

Brown R, Lee H, Eskin A, Kichaev G, Lohmueller KE, Reversade B, Nelson SF, Pasaniuc B. Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disordersEur J Hum Genet. 2015 Apr 22. doi: 10.1038/ejhg.2015.68.

Zoledziewska M*, Sidore C*, Chiang CW*, Sanna S*, Mulas A, Steri M, Busonero F, Marcus JH, Marongiu M, Maschio A, Del Vecchyo DO, Floris M, Meloni A, Delitala A, Concas MP, Murgia F, Biino G, Vaccargiu S, Nagaraja R, Lohmueller KE; UK10K Consortium, Timpson NJ, Soranzo N, Tachmazidou I, Dedoussis G, Zeggini E; Understanding Society Scientific Group, Uzzau S, Jones C, Lyons R, Angius A, Abecasis GR, Novembre J, Schlessinger D, Cucca F. Height-reducing variants and selection for short stature in SardiniaNat Genet. 2015 Nov;47(11):1352-6. (*Contributed equally).

Rohlfs RV, Aguiar VR, Lohmueller KE, Castro AM, Ferreira AC, Almeida VC, Louro ID, Nielsen R. Fitting the Balding-Nichols model to forensic databases. Forensic Sci Int Genet, 2015 Nov;19:86-91

Kim BY and Lohmueller KE. Selection and reduced population size cannot explain higher amounts of Neandertal ancestry in East Asian than in European human popualtions. Am J Hum Genet 2015 Mar 5;96(3):454-61.

2014

Lohmueller KE. The distribution of deleterious genetic variation in human populationsCurr Opin Genet Dev 2014 Oct 13;29C:139-146.

Lohmueller KE. Evolution. On the origin of Peter Rabbit. Science 2014 Aug 29;345(6200):1000-1

DeGiorgio M, Lohmueller KE, Nielsen R. A model-based approach for identifying signatures of ancient balancing selection in genetic data. PLoS Genet. 2014 Aug 21;10(8):e1004561.

Ko A, Cantor RM, Weissglas-Volkov D, Nikkola E, Linga Reddy PVM, Sinsheimer JS, Pasaniuc B, Brown R, Alvarez M, Rodriguez A, Rodriguez-Guillen R, Bautista IC, Arellano-Campos O, Muñoz-Hernández LL, Salomaa V, Kaprio J, Jula A, Jauhiainen M, Heliövaara M, Raitakari O, Lehtimäki T, Eriksson JG, Perola M, Lohmueller KE, Rodriguez-Torres M, Riba L, Tusie-Luna T, Aguilar-Salinas CA, Pajukanta P. Amerindian-specific regions under positive selection harbor new lipid variants in Latinos. Nat Commun 2014; 5: 3983. 

Lohmueller KE. The impact of population demography and selection on the genetic architecture of complex traits. PLoS Genetics 2014; 10: e1004379. 

Lohmueller KE, Rudin N, Inman K. Analysis of allelic drop-out using the Identifiler® and PowerPlex® 16 forensic STR typing systemsForensic Sci Int Genet 2014; 12C:1-11. 

Wilson Sayres M, Lohmueller KE, Nielsen R. Natural selection reduced diversity on human Y chromosomes. PLoS Genetics 2014; 10: e1004064.  

2013  
Lohmueller KE*, Sparsø T*, Li Q,  Andersson E, Korneliussen T, Albrechtsen A, Banasik K, Grarup N, Hallgrimsdottir I, Kiil K, Kilpeläinen T, Krarup N, Pers T, Sanchez G, Jørgensen T, Sandbæk A, Lauritzen T, Kristiansen K, Brunak S, Li Y, Hansen T, Wang J, Nielsen R, Pedersen O. Whole exome sequencing of 2,000 Danish individuals and the role of low-frequency coding variants in type 2 diabetes. Am J Hum Genet 2013; 93:1072-1086. (*Contributed equally).

Lohmueller KE, Rudin N.  Calculating the weight of evidence in low-template forensic DNA casework. Journal of Forensic Sciences, 2013; 58 Suppl 1:S243-9.  

2011
Rasmussen M*, Guo X*, Wang Y*, Lohmueller KE*, and 54 additional co-authors. Aboriginal Australian genomic sequence obtained from hundred-year-old lock of hair reveals separate human dispersals into Asia. Science 2011; 334:94-98 (*Contributed equally).

Lohmueller KE, Albrechtsen A, Li Y, Kim SY, Korneliussen T, Vinckenbosch N, Tian G, Huerta-Sanchez E, Feder A, Grarup N, Jørgensen T, Jiang T, Witte DR, Sandbæk A, Hellmann I, Lauritzen T, Hansen T, Pedersen O, Wang J, Nielsen R.  Natural selection affects multiple aspects of genetic variation at putatively neutral sites across the human genome.  PLoS Genetics 2011; 7:e1002326.

Kim SY, Lohmueller KE, Albrechtsen A, Li Y, Korneliussen T, Tian G, Grarup N, Jiang T, Andersen G, Witt D, Jorgensen T, Hansen T, Pedersen O, Wang J, Nielsen R.  Estimation of allele frequency and association mapping using next-generation sequencing data.  BMC Bioinformatics 2011; 12:231.

Lohmueller KE, Bustamante CD, Clark AG.  Detecting directional selection in the presence of recent admixture in African Americans. Genetics 2011; 187:823-835.

2010
Boyko A, Quignon P, Li L, Schoenebeck J, Degenhardt JD, Lohmueller KE, et al. A simple genetic architecture underlies quantitative traits in dogs, PLoS Biology 2010; 8:e1000451.

Lohmueller KE, Bustamante CD, Clark AG.  The effect of recent admixture on inference of ancient population history.  Genetics 2010; 185:611-622.

Lohmueller KE, Degenhardt JD, Keinan A. (Letter to the Editor) Sex-averaged recombination and mutation rates: A comment on Labuda et al., Am J Hum Genet 2010; 86:978-980.

Lohmueller KE.  (Letter to the Editor) Graydon et al. provide no new evidence that forensic STR loci are functional.  Forensic Sci Int Genet 2010; 4:273-274. 

vonHoldt BM, Pollinger JP, Lohmueller KE, et al. Genome-wide SNP and haplotype analysis reveals a rich history underlying dog domesticationNature 2010; 464:898-902.

2009
Wall JD, Lohmueller KE, Plagnol V. Detecting ancient admixture and estimating demographic parameters in multiple human populationsMol Biol Evol 2009; 26:1823-1827.

Lohmueller KE, Bustamante CD, Clark AG. Methods for human demographic inference using haplotype patterns from genome-wide SNP data.  Genetics 2009; 182:217-231.

Auton Α, Bryc Κ, Boyko ΑR, Lohmueller ΚΕ, Novembre J, Reynolds Α, Indap Α, Wright ΜΗ, Degenhardt  J, Gutenkunst  RN, King KS, Nelson MR, Bustamante CD. Global distribution of genomic diversity underscores rich complex history of continental human populations.  Genome Research 2009; 19:795-803.

2008
Boyko AR, Williamson SH, Indap AR, Degenhardt JD, Hernandez RD, Lohmueller KE, Adams MD, Schmidt A, Sninsky JJ, Sunyaev SR, White TJ, Nielsen R, Clark AG, Bustamante CD.  Assessing the evolutionary impact of amino acid mutations in the human genome.PLoS Genetics 2008; 4: e1000083.

Lohmueller KE, Indap AR, Schmidt S, Boyko AR, Hernandez RD, Hubisz MJ, Sninsky JJ, White TJ, Sunyaev SR, Nielsen R, Clark AG, Bustamante CD. Proportionally more deleterious genetic variation in European than in African populations. Nature 2008; 451:994-997.

Olshen AB, Gold B, Lohmueller KE, Struewing JP, Satagopan J, Stefanov SA, Eskin E, Kirchhoff T, Lautenberger JA, Klein RJ, Friedman E, Norton L, Ellis NA, Viale A, Lee CS, Borgen PI, Clark AG, Offit K, Boyd J. Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping. BMC Genetics 2008; 9:14.

2006
Lohmueller KE, Mauney MM, Reich DE, Braverman JM.  Variants associated with common disease are not unusually differentiated in frequency across populations.  Am J Hum Genet 2006; 78:130-136.

Lohmueller KE, Wong LJC, Mauney MM, Jiang L, Felder RA, Jose PA, Williams SM. Patterns of genetic variation in the hypertension candidate gene GRK4: ethnic variation and haplotype structure.  Ann Hum Genet 2006; 70:27-41.

2004
Patterson N, Hattangadi N, Lane B, Lohmueller KE, Hafler DA, Oksenberg JR, Hauser SL, Smith MW, O’Brien SJ, Altshuler D, Daly MJ, Reich D. Methods for high-density admixture mapping of disease genes.  Am J Hum Genet 2004; 74:979-1000.

2003
Lohmueller KE, Pierce CL, Pike M, Lander ES, Hirschhorn JN. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 2003; 33:177-182.

2002
Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K. A comprehensive review of genetic association studies. Genet Med 2002; 2:45-61.