Our Papers

Selected articles related to the Harvard Medical School PGP effort and/or using PGP resources.

An unbiased index to quantify participant's phenotypic contribution to an open-access cohort
Chan Y, Tung M, Garruss AS, Zaranek SW, Chan YK, Lunshof JE, Zaranek AW, Ball MP, Chou MF, Lim ET, Church GM. Sci Rep. 2017 Apr 7. (full text)
Association of two synonymous splicing-associated CpG single nucleotide polymorphisms in calpain 10 and solute carrier family 2 member 2 with type 2 diabetes
Karambataki M, et al. Biomed Rep. Feb 2017. (full text)



An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes
Cho YS, Kim H, Kim HM, Jho S, Jun J, Lee YJ, Chae KS, Kim CG, Kim S, Eriksson A, Edwards JS, Lee S, Kim BC, Manica A, Oh TK, Church GM, Bhak J. Nat Commun. 2016 Nov 24. (full text)


The whole genome sequences and experimentally phased haplotypes of over 100 personal genomes
Mao Q, Ciotlos S, Zhang RY, Ball MP, Chin R, Carnevali P, Barua N, Nguyen S, Agarwal MR, Clegg T, Connelly A, Vandewege W, Zaranek AW, Estep PW, Church GM, Drmanac R, Peters BA. Gigascience. 2016 Oct 11. (full text)



PALME: PAtients Like My gEnome.
Wang L, et al. AMIA Jt Summits Transl Sci Proc. 2016 Jul 20. (full text)


Extensive sequencing of seven human genomes to characterize benchmark reference materials
Zook JM, Catoe D, McDaniel J, Vang L, Spies N, Sidow A, Weng Z, Liu Y, Mason CE, Alexander N, Henaff E, McIntyre AB, Chandramohan D, Chen F, Jaeger E, Moshrefi A, Pham K, Stedman W, Liang T, Saghbini M, Dzakula Z, Hastie A, Cao H, Deikus G, Schadt E, Sebra R, Bashir A, Truty RM, Chang CC, Gulbahce N, Zhao K, Ghosh S, Hyland F, Fu Y, Chaisson M, Xiao C, Trow J, Sherry ST, Zaranek AW, Ball M, Bobe J, Estep P, Church GM, Marks P, Kyriazopoulou-Panagiotopoulou S, Zheng GX, Schnall-Levin M, Ordonez HS, Mudivarti PA, Giorda K, Sheng Y, Rypdal KB, Salit M. Sci Data. 2016 Jun 7. (full text)



Balancing Benefits and Risks of Immortal Data: Participants' Views of Open Consent in the Personal Genome Project
Zarate OA, Brody JG, Brown P, Ramirez-Andreotta MD, Perovich L, Matz J. Hastings Cent Rep. 2016 Jan-Feb. (full text)


Privacy Risks from Genomic Data-Sharing Beacons.
Shringarpure SS, Bustamante CD. Am J Hum Genet. 2015 Nov 5. (full text)



Quality control metrics improve repeatability and reproducibility of single-nucleotide variants derived from whole-genome sequencing
Zhang W, et al. Pharmacogenomics J. 2015 Aug.


A community assessment of privacy preserving techniques for human genomes.
Jiang X, et al. BMC Med Inform Decis Mak. 2014 Dec 8. (full text)


Whole genome sequencing of 35 individuals provides insights into the genetic architecture of Korean population
Zhang W, et al. BMC Bioinformatics. 2014 Oct 21. (full text)

VAS: a convenient web portal for efficient integration of genomic features with millions of genetic variants.
Ho ED, et al. BMC Genomics. 2014 Oct 11. (full text)

A probabilistic model to predict clinical phenotypic traits from genome sequencing.
Chen YC, et al. PLoS Comput Biol. 2014 Sep 4. (full text)

Harvard Personal Genome Project: lessons from participatory public research.
Ball MP, Bobe JR, Chou MF, Clegg T, Estep PW, Lunshof JE, Vandewege W, Zaranek A, Church GM. Genome Med. 2014 Feb 28. (full text)

PATH-SCAN: a reporting tool for identifying clinically actionable variants.
Daneshjou R, Zappala Z, Kukurba K, Boyle SM, Ormond KE, Klein TE, Snyder M, Bustamante CD, Altman RB, Montgomery SB. Pac Symp Biocomput. 2014. (full text)

Raw Personal Data: Providing Access
Lunshof JE, Church GM, Prainsack B. Science. 2014 Jan 24. (full text)

Optimization of Scarless Human Stem Cell Genome Editing
Yang L, Guell M, Byrne S, Yang JL, De Los Angeles A, Mali P, Aach J, Kim-Kiselak C, Briggs AW, Rios X, Huang PY, Daley G, Church G. Nucleic Acids Res. 2013 Jul 31. (PDF)


Our genomes today: time to be clear
Jeantine E Lunshof and Madeleine P Ball. Genome Med. 2013 Jun 27;5(6):52. (full text)


RNA-guided human genome engineering via Cas9
Mali P, Yang L, Esvelt KM, Aach J, Guell M, DiCarlo JE, Norville JE, Church GM. Science. 2013 Feb 15;339(6121):823-6. (PDF)


Genetic Privacy Needs a More Nuanced Approach
Misha Angrist, Nature, February 6, 2013.


Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells
Peters BA, Kermani BG, Sparks AB et al. Nature. 2012 Jul 11;487(7406):190-5. (pdf)


A Public Resource Facilitating Clinical Use of Genomes
Ball MP, Thakuria JV, Zaranek AW, Clegg T, Rosenbaum AM, Wu X, Angrist M, Bhak J, Bobe J, Callow M, Cano C, Chou MF, Chung WK, Douglas SM, Estep P, Gore A, Hulick P, Labarga A, Lee J, Lunshof J, Kim BC, Kim JI, Li Z, Murray MF, Nilsen GB, Peters B, Raman AM, Reinhoff HY, Robasky K, Wheeler M, Vandewege W, Vorhaus D, Yang JL, Yang L, Aach J, Ashley EA, Drmanac R, Kim SJ, Li JB, Peshkin L, Seidman CE, Seo JS, Zhang K, Rehm HL, Church GM. PNAS July 13, 2012. (pdf+html).


Health & Disease


Genomics and Privacy: Implications of the New Reality of Closed Data for the Field
Greenbaum D, Sboner A, Mu XJ, Gerstein M. PLoS Comput Biol. 2011 Dec;7(12):e1002278. (full text)



Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome
Kim KY, Hysolli E, Park IH. Proc Natl Acad Sci U S A. 2011 Aug 23;108(34):14169-74. (full text)


Health & Disease

Allele-specific methylation is prevalent and is contributed by CpG-SNPs in the human genome
Shoemaker R, Deng J, Wang W, Zhang K. Genome Res. 2010 Jul;20(7):883-9. (full text)



Personal genomes in progress: From the Human Genome Project to the Personal Genome Project
Jeantine Lunshof, Jason Bobe, John Aach, Misha Angrist, Joseph Thakuria, Daniel Vorhaus, Margret Hoehe, George Church. Dialogues in Clinical Neuroscience. 12(1):47-60, 2010. article


Targeted and whole-genome methylomics reveals gene-body signatures in human cell lines
Ball MP, Li JB, Gao Y, Lee J, LeProust E, Park I-H, Xie B, Daley GQ, Church GM. Nature Biotechnol 27:361-8. (PDF)



Multiplex padlock capturing and sequencing reveal human hypermutable CpG variations
Li JB, Gao Y, Aach J, Zhang K, Kryukov GV, Xie B, Ahlford A, Yoon J-K, Rosenbaum AM, Zaranek AW, LeProust E, Sunyaev SR, Church GM. Genome Res 19(9):1606-15. (PDF)



Digital RNA Allelotyping Reveals Tissue-specific and Allele-specific Gene Expression in Human
Zhang K, Li JB, Gao Y, Egli D, Xie B, Lee JH, Aach J, LeProust E, Eggan K, Church GM (20-Jul-2009) Nature Methods 6, 613 - 618. (abstract)



Functional characterization of the antibiotic resistance reservoir in the human microflora
Sommer MO, Dantas G, Church GM. Science. 2009 Aug 28;325(5944):1128-31. (PDF)



Health & Disease

Generation of Functional Human Hepatic Endoderm from Human iPS cells
Sullivan GJ, Hay DC, Park IH, Fletcher J, Hannoun Z, Payne CM, Dalgetty D, Black JR, Ross J, Samuel K, Wang G, Daley GQ, Lee JH, Church GM, Forbes SJ, Iredale JP, Wilmut I. Hepatology. 2010 Jan;51(1):329-35. (full text)


A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced pluripotent stem cells
Lee JH, Park IH, Gao Y, Li JB, Li Z, Daley GQ, Zhang K, Church GM. PLoS Genet. 2009 Nov;5(11):e1000718. (full text)


Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, Kermani BG, Carnevali P, Nazarenko I, Nilsen GB, Yeung G, Dahl F, Fernandez A, Staker B, Pant KP, Baccash J, Borcherding AP, Brownley A, Cedeno R, Chen L, Chernikoff D, Cheung A, Chirita R, Curson B, Ebert JC, Hacker CR, Hartlage R, Hauser B, Huang S, Jiang Y, Karpinchyk V, Koenig M, Kong C, Landers T, Le C, Liu J, McBride CE, Morenzoni M, Morey RE, Mutch K, Perazich H, Perry K, Peters BA, Peterson J, Pethiyagoda CL, Pothuraju K, Richter C, Rosenbaum AM, Roy S, Shafto J, Sharanhovich U, Shannon KW, Sheppy CG, Sun M, Thakuria JV, Tran A, Vu D, Zaranek AW, Wu X, Drmanac S, Oliphant AR, Banyai WC, Martin B, Ballinger DG, Church GM, Reid CA. Science. 2010 Jan 1;327(5961):78-81. (PDF)


From genetic privacy to open consent.
Lunshof JE, Chadwick R, Vorhaus DB, Church GM (2008) From genetic privacy to open consent. Nat Rev Genet. 2008 May;9(5):406-11. PMID: 18379574 (PDF)


The Personal Genome Project
George Church. Molecular Systems Biology, Dec 2005. (full text)


Our News


The Personal Genome Project blog posts news related to our project, including photos, interviews, and updates.

Visit the PGP blog

Selected articles about the Harvard Personal Genome Project

Unhidden Traits: Genomic Data Privacy Debates Heat Up by Abdul-Kareem Ahmed. Scientific American. August 14, 2013.

Our Genes, Their Secrets by Eleonore Pauwels. New York Times. June 18, 2013.

Personal Genome Project: Nature and Nurture, Warts and All by Michael Smith, MedPage Today, March 8, 2013

Networking Medicine by Jef Akst, The Scientist, March 2, 2013

Faroes 50,000 Residents Leap Into DNA Testing Quagmire by John Lauerman, Bloomberg, February 25, 2013

Finding the True $1000 Genome by Jeffrey Perkel, BioTechniques, February 10, 2013

Genetic Privacy Needs a More Nuanced Approach by Misha Angrist, Nature, February 6, 2013

Genomic Analysis, the Office Edition by Anne Eisenberg, New York Times, February 2, 2013

Next Generation Sequencing 2013: Looking Into Genomes by Jeffrey Perkel, Biocompare, January 29, 2013

Copy-editing the Genome: Extreme Personalized Medicine? by Francis Collins, NIH Director's Blog, January 22, 2013

Anonymous DNA donors identified by researchers by Lee Flohr, Science Fare, January 21, 2013

Geneticist on DNA privacy: Make it so people don't care by Eryn Brown, LA Times, January 18, 2013

Study Highlights the Risk of Handing Over Your Genome by Susan Young, MIT Technology Review, January 17, 2013

Scientists Discover How to Identify People From "Anonymous" Genomes by Greg Miller, Wired, January 17, 2013

Anonymity In Genetic Research Can Be Fleeting by Veronique Lacapra, NPR, January 17, 2013

Using simple tools, scientists show genetic privacy of research participants is at risk by Carolyn Johnson, Boston Globe, January 17, 2013

Anonymity Under Threat by Ruth Williams, The Scientist, January 17, 2013

As a Genetic Counselor, Would You Go Public With Your Genome? by Allie Hazell, The DNA Exchange, December 20, 2012

'Big data' transforms our lives and lifestyles by Chuck Raasch, USA Today, December 13, 2012

Would you make your DNA and health data public if it may help cure disease? by Carolyn Abraham, The Globe and Mail, December 7, 2012

The DNA Dilemma: Why science wants your genome The Globe and Mail, December 7, 2012

Book says 'Big Data' becoming a global nervous system by Chuch Raasch, USA Today, December 4, 2012

Madeleine Price Ball: Free the Data by Monica Heger, GenomeWeb, December 2012

My DNA Results Spur Alzheimer's Anxiety at $12,000 Cost by John Lauerman, Bloomberg, November 6, 2012

George Church: The Harvard Biologist Behind The Personal Genome Project by David Hyde, KUOW, October 29, 2012

Genome interpreter vies for place in clinical market by Monya Baker, Nature, October 9, 2012

Knome Launches knoSYS 100 Genome Supercomputer to Enhance Interpretation by Kevin Davies, Bio IT World, September 27, 2012

ENCODE: the rough guide to the human genome by Ed Young, Discover, September 5, 2012

NIST Consortium Embarks on Developing 'Meter Stick of the Genome' for Clinical Sequencing by Julia Karow, GenomeWeb, September 5, 2012

Genomics: Personal genome project by Bryony Jones, Nature Reviews Genetics, September, 2012

Personal Genome Project Members Report on Genome Interpretation Resource GenomeWeb, July 10, 2012

Researchers put selves under the microscope in self-experiments by Carolyn Johnson, Boston Globe, June 13, 2012

A Geneticist's Research Turns Personal by Anne Eisenberg, New York Times, June 2, 2012

Download Your Genomes on BitTorrent by Annalee Newitz, io9, March 11, 2009.

Genomes Offer Murky Clues to Personality, Physical Traits by Quinn Bowman, Online News Hour Extra, January 29, 2009.

My Genome, My Self by Steven Pinker, The New York Times Magazine, January 7, 2009.

"Taking a Peek at the Experts' Genetic Secrets" by Amy Harmon, The New York Times, October 19, 2008.

"Personal Genome Project Participants Get First Look at their DNA" by Carey Goldberg, Boston Globe, October 20, 2008.

"Subjects' DNA Secrets to be Revealed" by Carey Goldberg, Boston Globe, October 20, 2008.

"Genomes on Display" by Emily Singer, Technology Review, October 20, 2008.

"Genome Fanatics to Post Own DNA Sequences on Web" by Denise Lavoie, Fox News, October 20, 2008.

"Harvard Genome Volunteers Say They'll Reveal Own DNA" by John Lauerman, Bloomberg News, October 20, 2008.

"Thousands Volunteer to Expose DNA Secrets to the World" by Ewen Callaway, New Scientist, October 21, 2008.

"Sharing Your Personal Genetic Map With the World" by Nancy Shute, U.S. News & World Report, October 20, 2008.

"A New Sort of Facebook: Posting Your Genes on the Web" by Sarah Rubenstein, Wall Street Journal blog entry, October 20, 2008.

"10 Bay Staters to Post DNA Online" by Sacha Pfeiffer, WBUR (NPR's Boston affiliate), October 20, 2008.

"Genome Database Will Link Genes, Traits in Public View" by Ellen Nakashima, Washington Post, October 18, 2008.

How the Personal Genome Project Could Unlock the Mysteries of Life (Wired Magazine, Aug 2008, Thomas Goetz)

Inside the Forgotten X Prize-the One That Can Save Your Life (Popular Mechanics, Apr 2008, Erik Sofge)

From genetic privacy to open consent (Nature Reviews Genetics, Apr 2008, Jeantine E. Lunshof, Ruth Chadwick, Daniel B. Vorhaus & George M. Church)

HMS Prof To Expand Genome Database (Harvard Crimson, Mar 2008, June Q. Wu)

Your Personal Genome (Technology Review, Dec 2007, Emily Singer)

New Tech. Makes Sequencing Easy (Harvard Crimson, Dec 2007, Maeve T. Wang)

Group Led by Harvard's George Church Will Bid for Genomics X Prize (Xconomy, Dec 2007, Rebecca Zacks)

Genomics: Being Well Informed (Nature, Oct 2007, George Church)

Researcher says personal genetic testing nearly viable (North County Times, Oct 2007, Bradley J. Fikes)

Das offentliche Genom (Suddeutsche Zeitung, Aug 2007, Julia Karow) ('translation')

Full Disclosure (Wall St. Journal, July 2007, Esther Dyson)

Learning from Esther Dyson's Genome (Xconomy, July 2007, Erika Jonietz)

Church Hopes to Make DNA Decoding Accessible (Crimson, Aug 2006, Katherine Gray) Comments

The Personal Genome Project (Technology Review, Jan 2006, Emily Singer)

In a few years, knowing your own personal genome may improve your health (Knight Ridder, Jan 2006, Robert Boyd)

Genomes for All (George Church, Jan 2006, Scientific American)

The Personal Genome Project (Molecular Systems Biology, Dec 2005, George Church)

Harvard's Church Calls for 'Open Source', Non-Anonymous Personal Genome Project (GenomeWeb, Nov 2005, Bernadette Toner)

Press Contact