• Papers

    For a full publication list see this link: PubMed

    Selected Publications

    Wilfert AB, Chao KR, Kaushal M, Jain S, Zollner S, Adams DR, Conrad DF. Genome-wide significance testing of variation from single case exomes. Nat Genet. 2016 Dec;48(12):1455-1461.

    MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014. Apr 24;508(7497):469-76.

    Ramu A*, Noordam MJ*, Schwartz RS, Wuster A, Hurles ME, Cartwright RS, Conrad DF. DeNovoGear: indel and point mutation discovery and phasing. Nat Methods 2013 Oct 10(1):985-7

    Lopes A*, Aston K*, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF. Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PLoS Genetics 2013 Mar; 9(3):e1003349

    Conrad DF, Keebler JE, Depristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, Hurles ME, Awadalla P, on behalf of the 1000 genomes project. Variation in genome-wide mutation rates within and between human families. Nat Genet. 2011 Jun 12;43(7):712-714.

    Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L, Lee C, Turner DJ, Hurles ME. Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet. 2010 May;42(5):385-91.

    Conrad DF*, Pinto D*, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J; Wellcome Trust Case Control Consortium, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME. Origins and functional impact of copy number variation in the human genome. Nature. 2010 Apr 1;464(7289):704-12.

    Conrad DF, Hurles ME. The population genetics of structural variation. Nat Genet. 2007 Jul;39(7 Suppl):S30-6.

    Conrad DF*, Jakobsson M*, Coop G*, Wen X, Wall JD, Rosenberg NA, Pritchard JK. A worldwide survey of haplotype variation and linkage disequilibrium in the human genome. Nat Genet. 2006 Nov;38(11):1251-60. Epub 2006 Oct 22.

    Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK. A high-resolution survey of deletion polymorphism in the human genome. Nat Genet. 2006 Jan;38(1):75-81.

    *denotes equal first author contribution