Publications

The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration

Palmer DS, Hill B, Hodgson S, Jäeloo M, Kalantzis G, Kousathanas A, et al., Neale BM

medRxiv Preprint

Deviations from genetic additivity driven by rare variants at biobank scale

Lassen FH, Venkatesh SS, Baya NA, Lindgren CM, Palmer DS

Nature Communications

Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease

Baya NA, Lassen FH, Hill B, Venkatesh SS, Currant H, Lindgren CM, Palmer DS, et al.

American Journal of Human Genetics 113:1415–1433

Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases

Lassen FH, Kalantzis G, Eoli A, Hill B, Sonehara K, Namba S, Wade I, Palmer DS, et al.

American Journal of Human Genetics 113:1330–1346

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

Kim HI, DeBoever C, Walter K, Kalantzis G, Li C, Mozaffari SV, Kundu K, et al.

Nature Genetics

Systematic common and rare variant association testing in 392,030 whole genomes in All of Us

Lu W, Carroll RJ, Solomonson M, Guez J, He MK, Marten DJ, et al.

medRxiv Preprint

Population-scale ancestral recombination graphs with tskit 1.0

Jeffery B, Wong Y, Thornton K, Tsambos G, Bisschop G, Deng Y, et al.

arXiv:2602.09649 Preprint

Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects

Karczewski KJ, Gupta R, Kanai M, Lu W, Tsuo K, Wang Y, Walters RK, et al.

Nature Genetics 57:2408–2417

Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum

Venkatesh SS, Wittemans LBL, Palmer DS, Baya NA, Ferreira T, Hill B, et al.

Nature Genetics 57:1107–1118

Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution

Baya NA, Erdem IS, Venkatesh SS, Reibe S, Charles PD, et al.

American Journal of Human Genetics 112:2316–2337

A pandemic-scale ancestral recombination graph for SARS-CoV-2

Zhan SH, Wong Y, Ignatieva A, Eaton K, Guthrie I, Jeffery B, Palmer DS, et al.

bioRxiv Preprint

Disruption of cell-type-specific molecular programs of medium spiny neurons in autism

Yuan G, Suresh V, Wigdor EM, Hao Y, Leonard R, Steyert M, Griffiths M, et al.

bioRxiv Preprint

Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation

Carey CE, Shafee R, Wedow R, Elliott A, Palmer DS, Compitello J, et al.

Nature Human Behaviour 8:1599–1615

Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank

Lassen FH, Venkatesh SS, Baya N, Hill B, Zhou W, Bloemendal A, et al.

Cell Genomics 4(7)

Characterising the genetic architecture of changes in adiposity during adulthood using electronic health records

Venkatesh SS, Ganjgahi H, Palmer DS, Coley K, Linchangco GV Jr, Hui Q, et al.

Nature Communications 15:5801

A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release

Thompson DJ, Wells D, Selzam S, Peneva I, Moore R, Sharp K, et al.

PLoS ONE 19(9):e0307270

Analysis of genetic dominance in the UK Biobank

Palmer DS, Zhou W, Abbott L, Wigdor EM, Baya N, Churchhouse C, et al.

Science 379:1341–1348

A second update on mapping the human genetic architecture of COVID-19

Kanai M, Andrews SJ, Cordioli M, Stevens C, Neale BM, Daly M, Ganna A, et al.

Nature 621:E7–E26

Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia

Palmer DS, Howrigan DP, Chapman SB, Adolfsson R, Bass N, et al.

Nature Genetics 54:541–547

Rare coding variants in ten genes confer substantial risk for schizophrenia

Singh T, Poterba T, Curtis D, Akil H, Al Eissa M, Barchas JD, Bass N, et al.

Nature 604:509–516

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

Karczewski KJ, Solomonson M, Chao KR, Goodrich JK, Tiao G, Lu W, et al.

Cell Genomics 2(9)

Whole-genome sequencing reveals host factors underlying critical COVID-19

Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA, et al.

Nature 607:97–103

The female protective effect against autism spectrum disorder

Wigdor EM, Weiner DJ, Grove J, Fu JM, Thompson WK, Carey CE, et al.

Cell Genomics 2(6)

A data harmonization pipeline to leverage external controls and boost power in GWAS

Chen D, Tashman K, Palmer DS, Neale B, Roeder K, Bloemendal A, et al.

Human Molecular Genetics 31:481–489

Mapping the human genetic architecture of COVID-19

COVID-19 Host Genetics Initiative

Nature 600:472–477

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

Jia X, Goes FS, Locke AE, Palmer DS, Wang W, Cohen-Woods S, et al.

Molecular Psychiatry

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, et al.

Cell 180:568–584

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Heyne HO, Baez-Nieto D, Iqbal S, Palmer DS, Brunklaus A, May P, et al.

Science Translational Medicine 12:eaay6848

Mapping the drivers of within-host pathogen evolution using massive data sets

Palmer DS, Turner I, Fidler S, Frater J, Goedhals D, Goulder P, et al., McLean AR, McVean G

Nature Communications 10:3017

Identification of common genetic risk variants for autism spectrum disorder

Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, Pallesen J, et al.

Nature Genetics 51:431–444

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

Demontis D, Walters RK, Martin J, Mattheisen M, Als TD, Agerbo E, et al.

Nature Genetics 51:63–75

Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders

Lee PH, Anttila V, Won H, Feng YCA, Rosenthal J, Zhu Z, Tucker-Drob EM, et al.

Cell 179:1469–1482

Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

Satterstrom FK, Walters RK, Singh T, Wigdor EM, Lescai F, Demontis D, et al.

Nature Neuroscience 22:1961–1965

A naturally protective epitope of limited variability as an influenza vaccine target

Thompson CP, Lourenço J, Walters AA, Obolski U, Edmans M, Palmer DS, et al.

Nature Communications 9:3859

Large-scale meta-analysis highlights the hypothalamic–pituitary–gonadal axis in the genetic regulation of menstrual cycle length

Laisk T, Kukuškina V, Palmer D, Laber S, Chen CY, Ferreira T, et al.

Human Molecular Genetics 27:4323–4332

A genetic investigation of sex bias in the prevalence of attention-deficit/hyperactivity disorder

Martin J, Walters RK, Demontis D, Mattheisen M, Lee SH, Robinson E, et al.

Biological Psychiatry 83:1044–1053

Integrating genealogical and dynamical modelling to infer escape and reversion rates in HIV epitopes

Palmer D, Frater J, Phillips RE, McLean AR, McVean G

Proc. R. Soc. B 280:20130696

Cytotoxic T-lymphocyte escape mutations identified by HLA association favor those which escape and revert rapidly

Fryer HR, Frater J, Duda A, Palmer D, Phillips RE, McLean AR

Journal of Virology 86:8568–8580