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Department of Genetics faculty and collaborators published sixteen papers between July 23 and August 5.

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Genome-wide Association Study of Susceptibility to Particulate Matter-Associated QT Prolongation.

Gondalia R, Avery CL, Napier MD, Méndez-Giráldez R, Stewart JD, Sitlani CM, Li Y, Wilhelmsen KC, Duan Q, Roach J, North KE, Reiner AP, Zhang ZM, Tinker LF, Yanosky JD, Liao D, Whitsel EA.

Environ Health Perspect. 2017 Jun 8;125(6):067002. doi: 10.1289/EHP347.

PMID: 28749367

Metabolic reprogramming underlies metastatic potential in an obesity-responsive murine model of metastatic triple negative breast cancer.

O’Flanagan CH, Rossi EL, McDonell SB, Chen X, Tsai YH, Parker JS, Usary J, Perou CM, Hursting SD.

NPJ Breast Cancer. 2017 Jul 17;3:26. doi: 10.1038/s41523-017-0027-5. eCollection 2017.

PMID: 28748213

Sequencing and de novo assembly of 150 genomes from Denmark as a population reference.

Maretty L, Jensen JM, Petersen B, Sibbesen JA, Liu S, Villesen P, Skov L, Belling K, Theil Have C, Izarzugaza JMG, Grosjean M, Bork-Jensen J, Grove J, Als TD, Huang S, Chang Y, Xu R, Ye W, Rao J, Guo X, Sun J, Cao H, Ye C, van Beusekom J, Espeseth T, Flindt E, Friborg RM, Halager AE, Le Hellard S, Hultman CM, Lescai F, Li S, Lund O, Løngren P, Mailund T, Matey-Hernandez ML, Mors O, Pedersen CNS, Sicheritz-Pontén T, Sullivan P, Syed A, Westergaard D, Yadav R, Li N, Xu X, Hansen T, Krogh A, Bolund L, Sørensen TIA, Pedersen O, Gupta R, Rasmussen S, Besenbacher S, Børglum AD, Wang J, Eiberg H, Kristiansen K, Brunak S, Schierup MH.

Nature. 2017 Jul 26. doi: 10.1038/nature23264. [Epub ahead of print]

PMID: 28746312

Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms.

Horikoshi M, Pasquali L, Wiltshire S, Huyghe JR, Mahajan A, Asimit JL, Ferreira T, Locke AE, Robertson NR, Wang X, Sim X, Fujita H, Hara K, Young R, Zhang W, Choi S, Chen H, Kaur I, Takeuchi F, Fontanillas P, Thuillier D, Yengo L, Below JE, Tam CH, Wu Y, Abecasis G, Altshuler D, Bell GI, Blangero J, Burtt NP, Duggirala R, Florez JC, Hanis CL, Seielstad M, Atzmon G, Chan JC, Ma RC, Froguel P, Wilson JG, Bharadwaj D, Dupuis J, Meigs JB, Cho YS, Park T, Kooner JS, Chambers JC, Saleheen D, Kadowaki T, Tai ES, Mohlke KL, Cox NJ, Ferrer J, Zeggini E, Kato N, Teo YY, Boehnke M, McCarthy MI, Morris AP; T2D-GENES Consortium.

Hum Mol Genet. 2016 May 15;25(10):2070-2081. Epub 2016 Feb 23.

PMID: 26911676

Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment.

Lewis MA, Stine A, Paquin RS, Mansfield C, Wood D, Rini C, Roche MI, Powell CM, Berg JS, Bailey DB Jr.

Genet Med. 2017 Aug 3. doi: 10.1038/gim.2017.93. [Epub ahead of print]

PMID: 28771249

Correcting nucleotide-specific biases in high-throughput sequencing data.

Wang JR, Quach B, Furey TS.

BMC Bioinformatics. 2017 Aug 1;18(1):357. doi: 10.1186/s12859-017-1766-x.

PMID: 28764645

Genome-wide association analysis identifies common variants influencing infant brain volumes.

Xia K, Zhang J, Ahn M, Jha S, Crowley JJ, Szatkiewicz J, Li T, Zou F, Zhu H, Hibar D, Thompson P; ENIGMA Consortium, Sullivan PF, Styner M, Gilmore JH, Knickmeyer RC.

Transl Psychiatry. 2017 Aug 1;7(8):e1188. doi: 10.1038/tp.2017.159.

PMID: 28763065

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O’Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS.

Am J Hum Genet. 2017 Jun 1;100(6):895-906. doi: 10.1016/j.ajhg.2017.04.015. Epub 2017 May 25.

PMID: 28552198

A hidden Markov random field-based Bayesian method for the detection of long-range chromosomal interactions in Hi-C data.

Xu Z, Zhang G, Jin F, Chen M, Furey TS, Sullivan PF, Qin Z, Hu M, Li Y.

Bioinformatics. 2016 Mar 1;32(5):650-6. doi: 10.1093/bioinformatics/btv650. Epub 2015 Nov 4.

PMID: 26543175

APOBEC3B cytidine deaminase targets the non-transcribed strand of tRNA genes in yeast.

Saini N, Roberts SA, Sterling JF, Malc EP, Mieczkowski PA, Gordenin DA.

DNA Repair (Amst). 2017 May;53:4-14. doi: 10.1016/j.dnarep.2017.03.003. Epub 2017 Mar 21

PMID: 28351647

Root microbiota drive direct integration of phosphate stress and immunity.

Castrillo G, Teixeira PJ, Paredes SH, Law TF, de Lorenzo L, Feltcher ME, Finkel OM, Breakfield NW, Mieczkowski P, Jones CD, Paz-Ares J, Dangl JL.

Nature. 2017 Mar 23;543(7646):513-518. doi: 10.1038/nature21417. Epub 2017 Mar 15.

PMID: 28297714

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.

Patel RY, Shah N, Jackson AR, Ghosh R, Pawliczek P, Paithankar S, Baker A, Riehle K, Chen H, Milosavljevic S, Bizon C, Rynearson S, Nelson T, Jarvik GP, Rehm HL, Harrison SM, Azzariti D, Powell B, Babb L, Plon SE, Milosavljevic A; ClinGen Resource.

Genome Med. 2017 Jan 12;9(1):3. doi: 10.1186/s13073-016-0391-z.

PMID: 28081714

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

Couser NL, Marchuk DS, Smith LD, Arreola A, Kaiser-Rogers KA, Muenzer J, Pandya A, Gucsavas-Calikoglu M, Powell CM.

Am J Med Genet A. 2017 Jul 27. doi: 10.1002/ajmg.a.38351. [Epub ahead of print]

PMID: 28749033

Radiation Sensitivity in a Preclinical Mouse Model of Medulloblastoma Relies on the Function of the Intrinsic Apoptotic Pathway.

Crowther AJ, Ocasio JK, Fang F, Meidinger J, Wu J, Deal AM, Chang SX, Yuan H, Schmid R, Davis I, Gershon TR.

Cancer Res. 2016 Jun 1;76(11):3211-23. doi: 10.1158/0008-5472.CAN-15-0025. Epub 2016 Apr 13.

PMID: 27197166

Bap1 and Pbrm1: Determinants of Tumor Grade and mTOR Activation in VHL-Deficient Mouse Models of Renal Cell Carcinoma.

Leung JY, Kim WY.

Cancer Discov. 2017 Aug;7(8):802-804. doi: 10.1158/2159-8290.CD-17-0610.

PMID: 28765116

Lamellipodia are crucial for haptotactic sensing and response.

King SJ, Asokan SB, Haynes EM, Zimmerman SP, Rotty JD, Alb JG Jr, Tagliatela A, Blake DR, Lebedeva IP, Marston D, Johnson HE, Parsons M, Sharpless NE, Kuhlman B, Haugh JM, Bear JE.

J Cell Sci. 2016 Jun 15;129(12):2329-42. doi: 10.1242/jcs.184507. Epub 2016 May 12.

PMID: 27173494