2024
Helyaneh Ziaei Jam, Justin M Zook, Sara Javadzadeh, Jonghun Park, Aarushi Sehgal, Melissa Gymrek. (2024) LongTR: genome-wide profiling of genetic variation at tandem repeats from long reads. Genome Biology. [ Article]
Michael Lamkin, Melissa Gymrek. (2024) The emerging role of tandem repeats in complex traits. Nature Reviews Genetics. [Article] (Comment)
Adam C English, Egor Dolzhenko, Helyaneh Ziaei Jam, Sean K McKenzie, Nathan D Olson, Wouter De Coster, Jonghun Park, Bida Gu, Justin Wagner, Michael A Eberle, Melissa Gymrek, Mark J P Chaisson, Justin M Zook, Fritz J Sedlazeck. (2024) Analysis and benchmarking of small and large genomic variants across tandem repeats. Nature Biotechnology. [Article]
2023
Jonathan Margoliash, Shai Fuchs, Yang Li, Xuan Zhang, Arya Massarat, Alon Goren, Melissa Gymrek. (2023) Polymorphic short tandem repeats make widespread contributions to blood and serum traits. Cell Genomics. [Article] [Accompanying perspective]
Helyaneh Ziaei Jam, Yang Li, Ross DeVito, Nima Mousavi, Nichole Ma, Ibra Lujumba, Yagoub Adam, Mikhail Maksimov, Bonnie Huang, Egor Dolzhenko, Yunjiang Qiu, Fredrick Elishama Kakembo, Habi Joseph, Blessing Onyido, Jumoke Adeyemi, Mehrdad Bakhtiari, Jonghun Park, Sara Javadzadeh, Daudi Jjingo, Ezekiel Adebiyi, Vineet Bafna, Melissa Gymrek. (2023) A deep population reference panel of tandem repeat variation. Nature Communications. [Aricle]
Oxana Sachenkova Lundström, Max Adriaan Verbiest, Feifei Xia, Helyaneh Ziaei Jam, Inti Zlobec, Maria Anisimova, Melissa Gymrek. (2023) WebSTR: A Population-wide Database of Short Tandem Repeat Variation in Humans. J Mol Biol. [Article]
Arya Massarat, Melissa Gymrek, Brian McStay, Hákon Jónsson. (2023) Human pangenome supports analysis of complex genomic regions. Nature. [] (Perspective)
Mikhail O Maksimov, Cynthia Wu, David G Ashbrook, Flavia Villani, Vincenza Colonna, Nima Mousavi, Nichole Ma, Lu Lu, Jonathan K Pritchard, Alon Goren, Robert W Williams, Abraham A Palmer, Melissa Gymrek. (2023)
A novel quantitative trait locus implicates Msh3 in the propensity for genome-wide short tandem repeat expansions in mice. Genome Research. [Article ] [Cover image!]
Arya R Massarat, Michael Lamkin, Ciara Reeve, Amy L Williams, Matteo D'Antonio, Melissa Gymrek. (2023) Haptools: a toolkit for admixture and haplotype analysis. Bioinformatics. [Article] [Github]
An Zheng, Zeyang Shen, Christopher K Glass, Melissa Gymrek. (2023) Deep learning predicts the impact of regulatory variants on cell-type-specific enhancers in the brain. Bioinform Adv. [Article]
Max Verbiest, Mikhail Maksimov, Ye Jin, Maria Anisimova, Melissa Gymrek, Tugce Bilgin Sonay. (2024) Mutation and selection processes regulating short tandem repeats give rise to genetic and phenotypic diversity across species. J Evol Biol. [Article]
2022
Martin F Orth, Didier Surdez, Tobias Faehling, Anna C Ehlers, Aruna Marchetto, Sandrine Grossetête, Richard Volckmann, Danny A Zwijnenburg, Julia S Gerke, Sakina Zaidi, Javier Alonso, Ana Sastre, Sylvain Baulande, Martin Sill, Florencia Cidre-Aranaz, Shunya Ohmura, Thomas Kirchner, Stefanie M Hauck, Eva Reischl, Melissa Gymrek, Stefan M Pfister, Konstantin Strauch, Jan Koster, Olivier Delattre, Thomas G P Grünewald. (2022) Systematic multi-omics cell line profiling uncovers principles of Ewing sarcoma fusion oncogene-mediated gene regulation. Cell Rep. [Article]
Milad Mortazavi, Yangsu Ren, Shubham Saini, Danny Antaki, Celine L St Pierre, April Williams, Abhishek Sohni, Miles F Wilkinson, Melissa Gymrek, Jonathan Sebat, Abraham A Palmer. (2022) SNPs, short tandem repeats, and structural variants are responsible for differential gene expression across C57BL/6 and C57BL/10 substrains. Cell Genomics. [Article]
2021
Melissa Gymrek, Alon Goren. (2021) Missing heritability may be hiding in repeats. Science. [Article] (Perspective)
Marten A Hoeksema, Zeyang Shen, Inge R Holtman, An Zheng, Nathan J Spann, Isidoro Cobo, Melissa Gymrek, Christopher K Glass. (2021) Mechanisms underlying divergent responses of genetically distinct macrophages to IL-4. Science Advances. [Article]
Mel Lina Pinsach-Abuin, Bernat Del Olmo, Adrian Pérez-Agustin, Jesus Mates, Catarina Allegue, Anna Iglesias, Qi Ma, Daria Merkurjev, Sergiy Konovalov, Jing Zhang, Farah Sheikh, Amalio Telenti, Josep Brugada, Ramon Brugada, Melissa Gymrek, Julia di Iulio, Ivan Garcia-Bassets, Sara Pagans. (2021) Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants. Cell Rep Med. [Article]
An Zheng, Michael Lamkin, Yutong Qiu, Kevin Ren, Alon Goren, Melissa Gymrek. (2021) A flexible ChIP-sequencing simulation toolkit
. BMC Bioinformatics. [preprint] [chips package]
Mehrdad Bakhtiari, Jonghun Park, Yuan-Chun Ding, Sharona Shleizer-Burko, Susan L Neuhausen, Bjarni V Halldórsson, Kári Stefánsson, Melissa Gymrek, Vineet Bafna. (2021) Variable number tandem repeats mediate the expression of proximal genes. Nature Communications. [Article]
Ileena Mitra, Bonnie Huang, Nima Mousavi, Nichole Ma, Michael Lamkin, Richard Yanicky, Sharona Shleizer-Burko, Kirk E. Lohmueller, Melissa Gymrek. (2021) Patterns of de novo tandem repeat mutations and their role in autism. Nature. [ Article ] [ Nature news summary ] [ Blog lay summary ]
An Zheng, Michael Lamkin, Hanqing Zhao, Cynthia Wu, Hao Su, Melissa Gymrek. (2021) Deep neural networks identify context-specific determinants of transcription factor binding affinity. Nature Machine Intelligence. [DOI] [github]
2020
Nima Mousavi, Jonathan Margoliash, Neha Pusarla, Shubham Saini, Richard Yanicky, Melissa Gymrek. (2020) TRTools: a toolkit for genome-wide analysis of tandem repeats. Bioinformatics. [pubmed] [TRTools package]
Martin W Breuss, Danny Antaki, Renee D George, Morgan Kleiber, Kiely N James, Laurel L Ball, Oanh Hong, Ileena Mitra, Xiaoxu Yang, Sara A Wirth, Jing Gu, Camila A B Garcia, Madhusudan Gujral, William M Brandler, Damir Musaev, An Nguyen, Jennifer McEvoy-Venneri, Renatta Knox, Evan Sticca, Martha Cristina Cancino Botello, Javiera Uribe Fenner, Maria Cárcel Pérez, Maria Arranz, Andrea B Moffitt, Zihua Wang, Amaia Hervás, Orrin Devinsky, Melissa Gymrek, Jonathan Sebat, Joseph G Gleeson. (2020) Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nature Medicine. [pubmed]
2019
Stephanie Feupe Fotsing, Jonathan Margoliash, Catherine Wang, Shubham Saini, Sharona Shleizer-Burko, Alon Goren, Melissa Gymrek. (2019) The impact of short tandem repeat variation on gene expression. Nature Genetics. [pubmed] [Data]
Nima Mousavi, Sharona Shleizer-Burko, Richard Yanicky, Melissa Gymrek. (2019) Profiling the genome-wide landscape of tandem repeat expansions. Nucleic Acids Research. [pubmed] [github]
2018
Shubham Saini, Ileena Mitra, Nima Mousavi, Stephanie Feupe Fotsing, Melissa Gymrek. (2018) A reference haplotype panel for genome-wide imputation of short tandem repeats. Nature Communications. [pubmed] [Data]
Mehrdad Bakhtiari, Sharona Shleizer-Burko, Melissa Gymrek, Vikas Bansal, Vineet Bafna (2018) Targeted Genotyping of Variable Number Tandem Repeats with adVNTR. Genome Research. [pubmed]
Arfon M. Smith, Kyle E. Niemeyer, Daniel S. Katz, Lorena A. Barba, George Githinji, Melissa Gymrek, Kathryn D. Huff, Christopher R. Madan, Abigail Cabunoc Mayes, Kevin M. Moerman, Pjotr Prins, Karthik Ram, Ariel Rokem, Tracy K. Teal, Roman Valls Guimera, Jacob T. Vanderplas. (2018) Journal of Open Source Software (JOSS): design and first-year review. PeerJ [PeerJ]
Joanna Kaplanis, Assaf Gordon, Tal Shor, Omer Weissbrod, Dan Geiger, Mary Wahl, Michael Gershovits, Barak Markus, Mona Sheikh, Melissa Gymrek, Gaurav Bhatia, Daniel. G. MacArthur, Alkes L. Price, Yaniv Erlich. (2018) Quantitative analysis of population-scale family trees with millions of relatives. Science [pubmed]
2017
Melissa Gymrek, Thomas Willems, David Reich, Yaniv Erlich. (2017) Interpreting short tandem repeat variations in humans using mutational constraint. Nature Genetics. [pubmed]
Victor Rusu, Eitan Hoch, Josep M. Mercader, Danielle E. Tenen, Melissa Gymrek, Christina R. Hartigan, Michael DeRan, Marcin von Grotthuss, Pierre Fontanillas, Alexandra Spooner, Gaelen Guzman, Amy A. Deik, Kerry A. Pierce, Courtney Dennis, Clary B. Clish, Steven A. Carr, Bridget K. Wagner, Monica Schenone, Maggie C.Y. Ng, Brian H. Chen, MEDIA Consortium, SIGMA T2D Consortium , Federico Centeno-Cruz, Carlos Zerrweck, Lorena Orozco, David M. Altshuler, Stuart L. Schreiber, Jose C. Florez, Suzanne B.R. Jacobs, Eric S. Lander. (2017) Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms. Cell [pubmed]
Thomas Willems, Dina Zielinski, Assaf Gordon, Melissa Gymrek, Yaniv Erlich. (2017) Genome-wide profiling of heritable and de novo STR variations. Nature Methods. [pubmed]
Melissa Gymrek (2017) A genomic view of short tandem repeats. Curr Opin Genet Dev. [pubmed]2016
Swapan Mallick, Heng Li, Mark Lipson, Iain Mathieson, Melissa Gymrek, Fernando Racimo, Mengyao Zhao, Niru Chennagiri, Susanne Nordenfelt, Arti Tandon, Pontus Skoglund, Iosif Lazaridis, Sriram Sankararaman, Qiaomei Fu, Nadin Rohland, Gabriel Renaud, Yaniv Erlich, Thomas Willems, Carla Gallo, Jeffrey P. Spence, Yun S. Song, Giovanni Poletti, Francois Balloux, George van Driem, Peter de Knijff, Irene Gallego Romero, Aashish R. Jha, Doron M. Behar, Claudio M. Bravi, Cristian Capelli, Tor Hervig, Andres Moreno-Estrada, Olga L. Posukh, Elena Balanovska, Oleg Balanovsky, Sena Karachanak-Yankova, Hovhannes Sahakyan, Draga Toncheva, Levon Yepiskoposyan, Chris Tyler-Smith, Yali Xue, M. Syafiq Abdullah, Andres Ruiz-Linares, Cynthia M. Beall, Anna Di Rienzo, Choongwon Jeong, Elena B. Starikovskaya, Ene Metspalu, Jüri Parik, Richard Villems, Brenna M. Henn, Ugur Hodoglugil, Robert Mahley, Antti Sajantila, George Stamatoyannopoulos, Joseph T. S. Wee, Rita Khusainova, Elza Khusnutdinova, Sergey Litvinov, George Ayodo, David Comas, Michael F. Hammer, Toomas Kivisild, William Klitz, Cheryl A. Winkler, Damian Labuda, Michael Bamshad, Lynn B. Jorde, Sarah A. Tishkoff, W. Scott Watkins, Mait Metspalu, Stanislav Dryomov, Rem Sukernik, Lalji Singh, Kumarasamy Thangaraj, Svante Pääbo, Janet Kelso, Nick Patterson, David Reich (2016) The Simons Genome Diversity Project: 300 genomes from 142 diverse populations. Nature. [pubmed]
Melissa Gymrek, Yossi Farjoun. (2016) Recommendations for open data science. Gigascience. [pubmed]
Thomas Willems, Melissa Gymrek, G David Poznik, Chris Tyler-Smith, 1000 Genomes Project Chromosome Y Group, Yaniv Erlich. (2016) Population-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation Rates. Am J Hum Genet. [pubmed]
G David Poznik, Yali Xue, Fernando L Mendez, Thomas F Willems, Andrea Massaia, Melissa A Wilson Sayres, Qasim Ayub, Shane A McCarthy, Apurva Narechania, Seva Kashin, Yuan Chen, Ruby Banerjee, Juan L Rodriguez-Flores, Maria Cerezo, Haojing Shao, Melissa Gymrek, Ankit Malhotra, Sandra Louzada, Rob Desalle, Graham R S Ritchie, Eliza Cerveira, Tomas W Fitzgerald, Erik Garrison, Anthony Marcketta, David Mittelman, Mallory Romanovitch, Chengsheng Zhang, Xiangqun Zheng-Bradley, Gonçalo R Abecasis, Steven A McCarroll, Paul Flicek, Peter A Underhill, Lachlan Coin, Daniel R Zerbino, Fengtang Yang, Charles Lee, Laura Clarke, Adam Auton, Yaniv Erlich, Robert E Handsaker, The 1000 Genomes Project Consortium, Carlos D Bustamante, Chris Tyler-Smith. (2016) Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences. Nature Genetics. [pubmed]
Javier Quilez, Audrey Guilmatre, Paras Garg, Gareth Highnam, Melissa Gymrek, Yaniv Erlich, Ricky S. Joshi, David Mittelman, Andrew J. Sharp. (2016) Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans. Nucleic Acids Research. [pubmed]
Melissa Gymrek, Thomas Willems, Haoyang Zeng, Barak Markus, Mark J Daly, Alkes L Price, Jonathan Pritchard, Yaniv Erlich. (2016) Abundant contribution of short tandem repeats to gene expression variation in humans. Nature Genetics. [pubmed]
2015
1000 Genomes Project Consortium. (2015) A global reference for human genetic variation. Nature. [pubmed]
2014
Nicolo Riggi, Birgit Knoechel, Shawn M. Gillespie, Esther Rheinbay, Gaylor Boulay, Mario Suva, Nikki E. Rosetti, Wannaporn E. Boonseng, Ozgur Oksuz, Edward B. Cook, Aurelie Formey, Anoop Patel, Melissa Gymrek, Vishal Thapar, Vikram Deshpande, David T. King, Francis J. Hornicek, Petur Nielsen, Ivan Stamenkovic, Martin J. Aryee, Bradley E. Bernstein, Miguel N. Rivera. (2014) EWS-FLI1 Utilizes Divergent Chromatin Remodeling Mechanisms to Directly Activate or Repress Enhancer Elements in Ewing Sarcoma. Cancer Cell [pubmed]
Melissa Gymrek. (2014) PyBamView: a browser based application for viewing short read alignments. Bioinformatics. [pubmed]
Thomas F. Willems, Melissa Gymrek, Gareth Highnam, The 1000 Genomes Project, David Mittelman, Yaniv Erlich. (2014) The Landscape of Human STR Variation. Genome Res. [pubmed]
Dina Zielinski, Barak Markus, Mona Sheikh, Melissa Gymrek, Clement Chu, Marta Zaks, Balaji Srinivasan, Jodi D. Hoffman, Dror Aizenbud, Yaniv Erlich. (2014) OTX2 Duplication Is Implicated in Hemifacial Microsomia. PLoS One. 9(5):e96788 [pubmed]
2013
Michal Breker, Melissa Gymrek, Ofer Moldavski, Maya Schuldiner. (2013) LoQAtE--Localization and Quantitation ATlas of the yeast proteomE. A new tool for multiparametric dissection of single-protein behavior in response to biological perturbations in yeast. Nucleic Acids Res. [pubmed]
Melissa Gymrek, Yaniv Erlich. (2013) Profiling short tandem repeats from short reads. Methods Mol Biol. [pubmed]
Michal Breker, Melissa Gymrek, Maya Schuldiner. (2013) A novel single-cell screening platform reveals proteome plasticity during yeast stress responses. J Cell Biol. [pubmed]
Melissa Gymrek, Amy McGuire, David Golan, Eran Halperin, Yaniv Erlich. (2013) Identifying personal genomes by surname inference. Science. [pubmed]
2012
Dina Zielinski, Melissa Gymrek, Yaniv Erlich. (2012) Back to the family: a renewed approach to rare variant studies. Genome Med. [pubmed]
Carlos Sebastian, Bernadette Zwaans, Dafne Silberman, Melissa Gymrek, Alon Goren, Lei Zhong, Oren Ram, Jessica Truelove, Alexander Guimaraes, Debra Toiber, Claudia Cosentino, Joel Greenson, Alasdair MacDonald, Liane McGlynn, Fraser Maxwell, Joanne Edwards, Sofia Giacosa, Ernesto Guccione, Ralph Weissleder, Bradley Bernstein, Aviv Regev, Paul Shiels, David Lombard, Raul Mostoslavsky. (2012) The histone deacetylase SIRT6 is a tumor suppressor that controls cancer metabolism. Cell. [pubmed]
Michal Nadler-Holly, Michal Breker, Ranit Gruber, Ariel Azia, Melissa Gymrek, Miriam Eisenstein, Keith Willison, Maya Schuldiner, Amnon Horovitz. (2012) Interactions of subunit CCT3 in the yeast chaperonin CCT/TRiC with Q/N-rich proteins revealed by high-throughput microscopy analysis. Proc Natl Acad Sci U S A. [pubmed]
Melissa Gymrek, David Golan, Saharon Rosset, Yaniv Erlich. (2012) lobSTR: A short tandem repeat profiler for personal genomes. Genome Res. [pubmed]
Melissa Gymrek, Yaniv Erlich. (2012) Using DNA sequencers as stethoscopes. Genome Med. [pubmed]
2011
Oren Ram, Alon Goren, Ido Amit, Noam Shoresh, Nir Yosef, Jason Ernst, Manolis Kellis, Melissa Gymrek, Robbyn Issner, Michael Coyne, Timothy Durham, Xiaolan Zhang, Julie Donaghey, Charles Epstein, Aviv Regev, Bradley Bernstein. (2011) Combinatorial patterning of chromatin regulators uncovered by genome-wide location analysis in human cells. Cell. [pubmed]
2010
Kristen Naegle, Melissa Gymrek, Brian Joughin, Joel Wagner, Roy Welsch, Michael Yaffe, Douglas Lauffenburger, Forest White. (2010) PTMScout, a Web resource for analysis of high throughput post-translational proteomics studies. Mol Cell Proteomics. [pubmed]
Fatih Ozsolak, Alon Goren, Melissa Gymrek, Mitchell Guttman, Aviv Regev, Bradley Bernstein, Patrice Milos. (2010) Digital transcriptome profiling from attomole-level RNA samples. Genome Res. [pubmed]
2009
Alon Goren, Fatih Ozsolak, Noam Shoresh, Manching Ku, Mazhar Adli, Chris Hart, Melissa Gymrek, Or Zuk, Aviv Regev, Patrice Milos, Bradley Bernstein. (2009) Chromatin profiling by directly sequencing small quantities of immunoprecipitated DNA. Nat Methods. [pubmed]