Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease.
Kim SS, Dey KK, Weissbrod O, Márquez-Luna C, Gazal S, Price AL.
Nat Commun. 2020 12 07. 11(1):6258. PMID: 33288751
Professor
Alkes Price
Professor of Statistical Genetics
Epidemiology
Other Positions
Faculty Affiliate in the Department of Biostatistics
Biostatistics
Harvard T.H. Chan School of Public Health
Overview
I am a professor in the Program in Genetic Epidemiology and Statistical Genetics in the Department of Epidemiology at HSPH, with a secondary appointment in the Department of Biostatistics. I am an associate member of the Program in Medical and Population Genetics at the Broad Institute, and a member of the Program in Quantitative Genomics at HSPH. I am the recipient of the 2017 Harvard Chan Outstanding Postdoctoral Mentor Award. Our research focuses on the development of statistical methods for uncovering the genetic basis of human disease, and on the population genetics underlying these methods. Areas of interest include functional components of heritability, common vs. rare variant architectures, and disease mapping in structured populations.
"Everything should be made as simple as possible, but no simpler" - Albert Einstein
Bibliography
Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements.
Amariuta T, Ishigaki K, Sugishita H, Ohta T, Koido M, Dey KK, Matsuda K, Murakami Y, Price AL, Kawakami E, Terao C, Raychaudhuri S.
Nat Genet. 2020 12. 52(12):1346-1354. PMID: 33257898
Functionally informed fine-mapping and polygenic localization of complex trait heritability.
Weissbrod O, Hormozdiari F, Benner C, Cui R, Ulirsch J, Gazal S, Schoech AP, van de Geijn B, Reshef Y, Márquez-Luna C, O'Connor L, Pirinen M, Finucane HK, Price AL.
Nat Genet. 2020 12. 52(12):1355-1363. PMID: 33199916
Evaluating the informativeness of deep learning annotations for human complex diseases.
Dey KK, van de Geijn B, Kim SS, Hormozdiari F, Kelley DR, Price AL.
Nat Commun. 2020 09 17. 11(1):4703. PMID: 32943643
GBAT: a gene-based association test for robust detection of trans-gene regulation.
Liu X, Mefford JA, Dahl A, He Y, Subramaniam M, Battle A, Price AL, Zaitlen N.
Genome Biol. 2020 08 24. 21(1):211. PMID: 32831138
Quantifying genetic effects on disease mediated by assayed gene expression levels.
Yao DW, O'Connor LJ, Price AL, Gusev A.
Nat Genet. 2020 06. 52(6):626-633. PMID: 32424349
Annotations capturing cell type-specific TF binding explain a large fraction of disease heritability.
van de Geijn B, Finucane H, Gazal S, Hormozdiari F, Amariuta T, Liu X, Gusev A, Loh PR, Reshef Y, Kichaev G, Raychauduri S, Price AL.
Hum Mol Genet. 2020 May 08. 29(7):1057-1067. PMID: 31595288
Erratum. Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. Diabetes 2019;68:441-456.
Pollack S, Igo RP, Jensen RA, Christiansen M, Li X, Cheng CY, Ng MCY, Smith AV, Rossin EJ, Segrè AV, Davoudi S, Tan GS, Ida Chen YD, Kuo JZ, Dimitrov LM, Stanwyck LK, Meng W, Hosseini SM, Imamura M, Nousome D, Kim J, Hai Y, Jia Y, Ahn J, Leong A, Shah K, Park KH, Guo X, Ipp E, Taylor KD, Adler SG, Sedor JR, Freedman BI, Lee IT, Sheu WH, Kubo M, Takahashi A, Hadjadj S, Marre M, Tregouet DA, Mckean-Cowdin R, Varma R, McCarthy MI, Groop L, Ahlqvist E, Lyssenko V, Agardh E, Morris A, Doney ASF, Colhoun HM, Toppila I, Sandholm N, Groop PH, Maeda S, Hanis CL, Penman A, Chen CJ, Hancock H, Mitchell P, Craig JE, Chew EY, Paterson AD, Grassi MA, Palmer C, Bowden DW, Yaspan BL, Siscovick D, Cotch MF, Wang JJ, Burdon KP, Wong TY, Klein BEK, Klein R, Rotter JI, Iyengar SK, Price AL, Sobrin L.
Diabetes. 2020 Jun. 69(6):1306. PMID: 32341040
Liability threshold modeling of case-control status and family history of disease increases association power.
Hujoel MLA, Gazal S, Loh PR, Patterson N, Price AL.
Nat Genet. 2020 05. 52(5):541-547. PMID: 32313248
Genes with High Network Connectivity Are Enriched for Disease Heritability.
Kim SS, Dai C, Hormozdiari F, van de Geijn B, Gazal S, Park Y, O'Connor L, Amariuta T, Loh PR, Finucane H, Raychaudhuri S, Price AL.
Am J Hum Genet. 2019 Dec 05. 105(6):1302. PMID: 31809749
News
New insights on genes and diseases
A person who is genetically at increased risk for developing the eating disorder anorexia appears to also have a slightly increased genetic risk for schizophrenia, but a slightly decreased genetic risk for obesity, according to a new genetic…
Probing genes for disease risk
December 5, 2014 -- New research by Alkes Price, associate professor of statistical genetics at Harvard School of Public Health, and colleagues focuses on new approaches to characterizing and identifying genetic factors in complex disease. What’s the basic…
HSPH, Dana-Farber host sixth annual quantitative genomics conference
November 27, 2012 -- What does genome-wide analysis reveal about complex human traits? What’s the best way to design and analyze gene-sequencing studies? These were some of the questions addressed at the sixth annual PQG (Program in Quantitative…
HSPH study suggests natural selection at work in certain disease-related genes
September 29, 2011 A new study led by Harvard School of Public Health (HSPH) researchers implies that, among three closely related African-ancestry populations, natural selection is at work in genes related to malaria and bladder and gastric cancers.…
New research reveals the ancestral populations of India and their relationships to modern groups
International effort is the first genome-scale analysis of diverse Indian groups For immediate release: Wednesday, September 23, 2009 Hyderabad, India; Cambridge and Boston, USA--In a study published in the September 24th issue of Nature, an international team describes…