Zachary Szpiech

Assistant Professor of Biology

Research Summary

Population and evolutionary genetics, with applications to medical genetics, anthropology, and conservation

Huck Affiliations

Links

Publication Tags

Genome Population Asthma Genes Genetic Variation Mutation Mutant Proteins Histidine Haplotypes Loci Homozygote Whole Genome Sequencing Demography Genotype History Fibroblasts Pharmaceutical Preparations Proteins Arginine Demographic Statistics Communication Demographic History Bronchodilator Agents Neoplasms Effect

Most Recent Papers

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Daniel Taliun, Daniel N. Harris, Michael D. Kessler, Jedidiah Carlson, Zachary A. Szpiech, Raul Torres, Sarah A.Gagliano Taliun, André Corvelo, Stephanie M. Gogarten, Hyun Min Kang, Achilleas N. Pitsillides, Jonathon LeFaive, Seung been Lee, Xiaowen Tian, Brian L. Browning, Sayantan Das, Anne Katrin Emde, Wayne E. Clarke, Douglas P. Loesch, Amol C. Shetty, Thomas W. Blackwell, Albert V. Smith, Quenna Wong, Xiaoming Liu, Matthew P. Conomos, Dean M. Bobo, François Aguet, Christine Albert, Alvaro Alonso, Kristin G. Ardlie, Dan E. Arking, Stella Aslibekyan, Paul L. Auer, John Barnard, R. Graham Barr, Lucas Barwick, Lewis C. Becker, Rebecca L. Beer, Emelia J. Benjamin, Lawrence F. Bielak, John Blangero, Michael Boehnke, Donald W. Bowden, Jennifer A. Brody, Esteban G. Burchard, Brian E. Cade, James F. Casella, Brandon Chalazan, Daniel I. Chasman, Yii Der Ida Chen, 2021, Nature on p. 290-299

Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations

Michelle Daya, Nicholas Rafaels, Tonya M. Brunetti, Sameer Chavan, Albert M. Levin, Aniket Shetty, Christopher R. Gignoux, Meher Preethi Boorgula, Genevieve Wojcik, Monica Campbell, Candelaria Vergara, Dara G. Torgerson, Victor E. Ortega, Ayo Doumatey, Henry Richard Johnston, Nathalie Acevedo, Maria Ilma Araujo, Pedro C. Avila, Gillian Belbin, Eugene Bleecker, Carlos Bustamante, Luis Caraballo, Alvaro Cruz, Georgia M. Dunston, Celeste Eng, Mezbah U. Faruque, Trevor S. Ferguson, Camila Figueiredo, Jean G. Ford, Weiniu Gan, Pierre Antoine Gourraud, Nadia N. Hansel, Ryan D. Hernandez, Edwin Francisco Herrera-Paz, Silvia Jiménez, Eimear E. Kenny, Jennifer Knight-Madden, Rajesh Kumar, Leslie A. Lange, Ethan M. Lange, Antoine Lizee, Pissamai Maul, Trevor Maul, Alvaro Mayorga, Deborah Meyers, Dan L. Nicolae, Timothy D. O’Connor, Ricardo Riccio Oliveira, Christopher O. Olopade, Zachary A. Szpiech, 2019, Nature Communications

Author Correction

Michelle Daya, Nicholas Rafaels, Tonya M. Brunetti, Sameer Chavan, Albert M. Levin, Aniket Shetty, Christopher R. Gignoux, Meher Preethi Boorgula, Genevieve Wojcik, Monica Campbell, Candelaria Vergara, Dara G. Torgerson, Victor E. Ortega, Ayo Doumatey, Henry Richard Johnston, Nathalie Acevedo, Maria Ilma Araujo, Pedro C. Avila, Gillian Belbin, Eugene Bleecker, Carlos Bustamante, Luis Caraballo, Alvaro Cruz, Georgia M. Dunston, Celeste Eng, Mezbah U. Faruque, Trevor S. Ferguson, Camila Figueiredo, Jean G. Ford, Weiniu Gan, Pierre Antoine Gourraud, Nadia N. Hansel, Ryan D. Hernandez, Edwin Francisco Herrera-Paz, Silvia Jiménez, Eimear E. Kenny, Jennifer Knight-Madden, Rajesh Kumar, Leslie A. Lange, Ethan M. Lange, Antoine Lizee, Pissamai Maul, Trevor Maul, Alvaro Mayorga, Deborah Meyers, Dan L. Nicolae, Timothy D. O’Connor, Ricardo Riccio Oliveira, Christopher O. Olopade, Zachary A. Szpiech, 2019, Nature Communications

Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity

Zachary A. Szpiech, Angel C.Y. Mak, Marquitta J. White, Donglei Hu, Celeste Eng, Esteban G. Burchard, Ryan D. Hernandez, 2019, American Journal of Human Genetics on p. 747-762

Whole-Genome sequencing of pharmacogenetic drug response in racially diverse children with asthma

Angel C.Y. Mak, Marquitta J. White, Walter L. Eckalbar, Zachary A. Szpiech, Sam S. Oh, Maria Pino-Yanes, Donglei Hu, Paǵe Goddard, Scott Huntsman, Joshua Galanter, Ann Chen Wu, Blanca E. Himes, Soren Germer, Julia M. Vogel, Karen L. Bunting, Celeste Eng, Sandra Salazar, Kevin L. Keys, Jennifer Liberto, Thomas J. Nuckton, Thomas A. Nguyen, Dara G. Torgerson, Pui Yan Kwok, Albert M. Levin, Juan C. Celedón, Erick Forno, Hakon Hakonarson, Patrick M. Sleiman, Amber Dahlin, Kelan G. Tantisira, Scott T. Weiss, Denise Serebrisky, Emerita Brigino-Buenaventura, Harold J. Farber, Kelley Meade, Michael A. Lenoir, Pedro C. Avila, Saunak Sen, Shannon M. Thyne, William Rodriguez-Cintron, Cheryl A. Winkler, Andŕes Moreno-Estrada, Karla Sandoval, Jose R. Rodriguez-Santana, Rajesh Kumar, L. Keoki Williams, Nadav Ahituv, Elad Ziv, Max A. Seibold, Robert B. Darnell, Noah Zaitlen, Ryan D. Hernandez, Esteban G. Burchard, 2018, American Journal of Respiratory and Critical Care Medicine on p. 1552-1564

Human demographic history has amplified the effects of background selection across the genome

Raul Torres, Zachary A. Szpiech, Ryan D. Hernandez, 2018, PLoS Genetics

Optimized distributed systems achieve significant performance improvement on sorted merging of massive VCF files

Xiaobo Sun, Jingjing Gao, Peng Jin, Celeste Eng, Esteban G. Burchard, Terri H. Beaty, Ingo Ruczinski, Rasika Ann Mathias, Kathleen Barnes, Fusheng Wang, Zhaohui S. Qin, Kathleen C. Barnes, Meher Preethi Boorgula, Monica Campbell, Sameer Chavan, Jean G. Ford, Cassandra Foster, Li Gao, Nadia N. Hansel, Edward Horowitz, Lili Huang, Romina Ortiz, Joseph Potee, Nicholas Rafaels, Alan F. Scott, Margaret A. Taub, Candelaria Vergara, Yijuan Hu, Henry Richard Johnston, Albert M. Levin, Badri Padhukasahasram, L. Keoki Williams, Georgia M. Dunston, Mezbah U. Faruque, Eimear E. Kenny, Kimberly Gietzen, Mark Hansen, Rob Genuario, Dave Bullis, Cindy Lawley, Aniket Deshpande, Wendy E. Grus, Devin P. Locke, Marilyn G. Foreman, Pedro C. Avila, Leslie Grammer, Kwang Youn A. Kim, Rajesh Kumar, Robert Schleimer, Zachary A. Szpiech, 2018, GigaScience

Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk

Trevor J. Pemberton, Zachary A. Szpiech, 2018, American Journal of Human Genetics on p. 658-675

Weighted likelihood inference of genomic autozygosity patterns in dense genotype data

Alexandra Blant, Michelle Kwong, Zachary A. Szpiech, Trevor J. Pemberton, 2017, BMC Genomics

Cancer-associated arginine-to-histidine mutations confer a gain in pH sensing to mutant proteins

Katharine A. White, Diego Garrido Ruiz, Zachary A. Szpiech, Nicolas B. Strauli, Ryan D. Hernandez, Matthew P. Jacobson, Diane L. Barber, 2017, Science Signaling

Most-Cited Papers

Selscan: An efficient multithreaded program to perform EHH-based scans for positive selection

Zachary A. Szpiech, Ryan D. Hernandez, 2014, Molecular Biology and Evolution on p. 2824-2827

Genetic Ancestry and Natural Selection Drive Population Differences in Immune Responses to Pathogens

Yohann Nédélec, Joaquín Sanz, Golshid Baharian, Zachary A. Szpiech, Alain Pacis, Anne Dumaine, Jean Christophe Grenier, Andrew Freiman, Aaron J. Sams, Steven Hebert, Ariane Pagé Sabourin, Francesca Luca, Ran Blekhman, Ryan D. Hernandez, Roger Pique-Regi, Jenny Tung, Vania Yotova, Luis B. Barreiro, 2016, Cell on p. 657-669.e21

Long runs of homozygosity are enriched for deleterious variation

Zachary A. Szpiech, Jishu Xu, Trevor J. Pemberton, Weiping Peng, Sebastian Zöllner, Noah A. Rosenberg, Jun Z. Li, 2013, American Journal of Human Genetics on p. 90-102

High-resolution network biology

Colm J. Ryan, Peter Cimermančič, Zachary A. Szpiech, Andrej Sali, Ryan D. Hernandez, Nevan J. Krogan, 2013, Nature Reviews Genetics on p. 865-879

Whole-Genome sequencing of pharmacogenetic drug response in racially diverse children with asthma

Angel C.Y. Mak, Marquitta J. White, Walter L. Eckalbar, Zachary A. Szpiech, Sam S. Oh, Maria Pino-Yanes, Donglei Hu, Paǵe Goddard, Scott Huntsman, Joshua Galanter, Ann Chen Wu, Blanca E. Himes, Soren Germer, Julia M. Vogel, Karen L. Bunting, Celeste Eng, Sandra Salazar, Kevin L. Keys, Jennifer Liberto, Thomas J. Nuckton, Thomas A. Nguyen, Dara G. Torgerson, Pui Yan Kwok, Albert M. Levin, Juan C. Celedón, Erick Forno, Hakon Hakonarson, Patrick M. Sleiman, Amber Dahlin, Kelan G. Tantisira, Scott T. Weiss, Denise Serebrisky, Emerita Brigino-Buenaventura, Harold J. Farber, Kelley Meade, Michael A. Lenoir, Pedro C. Avila, Saunak Sen, Shannon M. Thyne, William Rodriguez-Cintron, Cheryl A. Winkler, Andŕes Moreno-Estrada, Karla Sandoval, Jose R. Rodriguez-Santana, Rajesh Kumar, L. Keoki Williams, Nadav Ahituv, Elad Ziv, Max A. Seibold, Robert B. Darnell, Noah Zaitlen, Ryan D. Hernandez, Esteban G. Burchard, 2018, American Journal of Respiratory and Critical Care Medicine on p. 1552-1564

On the size distribution of private microsatellite alleles

Zachary A. Szpiech, Noah A. Rosenberg, 2011, Theoretical Population Biology on p. 100-113

Cancer-associated arginine-to-histidine mutations confer a gain in pH sensing to mutant proteins

Katharine A. White, Diego Garrido Ruiz, Zachary A. Szpiech, Nicolas B. Strauli, Ryan D. Hernandez, Matthew P. Jacobson, Diane L. Barber, 2017, Science Signaling

Human demographic history has amplified the effects of background selection across the genome

Raul Torres, Zachary A. Szpiech, Ryan D. Hernandez, 2018, PLoS Genetics

Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations

Michelle Daya, Nicholas Rafaels, Tonya M. Brunetti, Sameer Chavan, Albert M. Levin, Aniket Shetty, Christopher R. Gignoux, Meher Preethi Boorgula, Genevieve Wojcik, Monica Campbell, Candelaria Vergara, Dara G. Torgerson, Victor E. Ortega, Ayo Doumatey, Henry Richard Johnston, Nathalie Acevedo, Maria Ilma Araujo, Pedro C. Avila, Gillian Belbin, Eugene Bleecker, Carlos Bustamante, Luis Caraballo, Alvaro Cruz, Georgia M. Dunston, Celeste Eng, Mezbah U. Faruque, Trevor S. Ferguson, Camila Figueiredo, Jean G. Ford, Weiniu Gan, Pierre Antoine Gourraud, Nadia N. Hansel, Ryan D. Hernandez, Edwin Francisco Herrera-Paz, Silvia Jiménez, Eimear E. Kenny, Jennifer Knight-Madden, Rajesh Kumar, Leslie A. Lange, Ethan M. Lange, Antoine Lizee, Pissamai Maul, Trevor Maul, Alvaro Mayorga, Deborah Meyers, Dan L. Nicolae, Timothy D. O’Connor, Ricardo Riccio Oliveira, Christopher O. Olopade, Zachary A. Szpiech, 2019, Nature Communications

Identifying tagging SNPs for African specific genetic variation from the African Diaspora Genome

Henry Richard Johnston, Yi Juan Hu, Jingjing Gao, Timothy D. O'Connor, Gonçalo R. Abecasis, Genevieve L. Wojcik, Christopher R. Gignoux, Pierre Antoine Gourraud, Antoine Lizee, Mark Hansen, Rob Genuario, Dave Bullis, Cindy Lawley, Eimear E. Kenny, Carlos Bustamante, Terri H. Beaty, Rasika A. Mathias, Kathleen C. Barnes, Zhaohui S. Qin, Meher Preethi Boorgula, Monica Campbell, Sameer Chavan, Jean G. Ford, Cassandra Foster, Li Gao, Nadia N. Hansel, Edward Horowitz, Lili Huang, Romina Ortiz, Joseph Potee, Nicholas Rafaels, Ingo Ruczinski, Alan F. Scott, Margaret A. Taub, Candelaria Vergara, Albert M. Levin, Badri Padhukasahasram, L. Keoki Williams, Georgia M. Dunston, Mezbah U. Faruque, Kimberly Gietzen, Aniket Deshpande, Wendy E. Grus, Devin P. Locke, Marilyn G. Foreman, Pedro C. Avila, Leslie Grammer, Kwang Youn A. Kim, Rajesh Kumar, Zachary A. Szpiech, 2017, Scientific Reports