Biology & Life Sciences

Editor’s Picks: Human Genetics

Published September 10, 2018 Curated Collections

Human Genetics encompasses vast areas of study, including genetic epidemiology, genomics, gene therapy, epigenetics, and evolution. The very latest research in these areas and more will be on display at the upcoming annual meeting of the American Society of Human Genetics (ASHG). Below, PLOS ONE Associate Editor, Adya Misra shares a sampling of exciting Human Genetics research from PLOS journals. PLOS welcomes submissions in these fields.

Image Credit: Pixabay

Jump to section

Perspective
Genetics of Neurological Dysfunction
Genetic Instability and Tumours
Conservation Genetics and Adaptation
The Role of Mitochondrial DNA in Disease
Regulation of Gene Expression
Genetic Association Studies

Perspective

Image credit
10.1371/journal.pbio.1002216

PLOS Biology Where Next for Genetics and Genomics?
July 30, 2015 Chris Tyler-Smith, Huanming Yang, Laura F. Landweber, Ian Dunham, Bartha M. Knoppers, Peter Donnelly, Elaine R. Mardis, Michael Snyder, Gil McVean

Genetics of Neurological Dysfunction

Image credit
10.1371/journal.pone.0182448

PLOS ONE Genetic variants specific to aging-related verbal memory: Insights from GWASs in a population-based cohort
August 11, 2017 Thalida E. Arpawong, Neil Pendleton, Krisztina Mekli, John J. McArdle, Margaret Gatz, Chris Armoskus, James A. Knowles, Carol A. Prescott
Image credit
10.1371/journal.pone.0153864

PLOS ONE Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech
April 27, 2016 Beate Peter, Ellen M. Wijsman, Alejandro Q. Nato Jr., University of Washington Center for Mendelian Genomics , Mark M. Matsushita, Kathy L. Chapman, Ian B. Stanaway, John Wolff, Kaori Oda, Virginia B. Gabo, Wendy H. Raskind
Image credit
10.1371/journal.pmed.1001866

PLOS Medicine Vitamin D and Risk of Multiple Sclerosis: A Mendelian Randomization Study
August 25, 2015 Lauren E. Mokry, Stephanie Ross, Omar S. Ahmad, Vincenzo Forgetta, George Davey Smith, Aaron Leong, Celia M. T. Greenwood, George Thanassoulis, J. Brent Richards
Image credit
10.1371/journal.pone.0086469

PLOS ONE Expression of microRNAs and Other Small RNAs in Prefrontal Cortex in Schizophrenia, Bipolar Disorder and Depressed Subjects
January 27, 2014 Neil R. Smalheiser, Giovanni Lugli, Hui Zhang, Hooriyah Rizavi, Edwin H. Cook, Yogesh Dwivedi
Image credit
10.1371/journal.pone.0175560

PLOS ONE Genetic factors influencing frontostriatal dysfunction and the development of dementia in Parkinson’s disease
April 11, 2017 Ismael Huertas, Silvia Jesús, Francisco Javier García-Gómez, José Antonio Lojo, Inmaculada Bernal-Bernal, Marta Bonilla-Toribio, Juan Francisco Martín-Rodriguez, David García-Solís, Pilar Gómez-Garre, Pablo Mir

Genetic Instability and Tumours

Image credit
10.1371/journal.pone.0118307

PLOS ONE Increased Risk of Genetic and Epigenetic Instability in Human Embryonic Stem Cells Associated with Specific Culture Conditions
February 25, 2015 Ibon Garitaonandia, Hadar Amir, Francesca Sesillo Boscolo, Gerald K. Wambua, Heather L. Schultheisz, Karen Sabatini, Robert Morey, Shannon Waltz, Yu-Chieh Wang, Ha Tran, Trevor R. Leonardo, Kristopher Nazor, Ileana Slavin, Candace Lynch, Yingchun Li, Ronald Coleman, Irene Gallego Romero, Gulsah Altun, David Reynolds, Stephen Dalton, Mana Parast, Jeanne F. Loring, Louise C. Laurent
Image credit
10.1371/journal.pgen.1006162

PLOS Genetics Fragment Length of Circulating Tumor DNA
July 18, 2016 Hunter R. Underhill, Jacob O. Kitzman, Sabine Hellwig, Noah C. Welker, Riza Daza, Daniel N. Baker, Keith M. Gligorich, Robert C. Rostomily, Mary P. Bronner, Jay Shendure

Conservation Genetics and Adaptation

Image credit
10.1371/journal.pcbi.1004711

PLOS Computational Biology Erosion of Conserved Binding Sites in Personal Genomes Points to Medical Histories
February 4, 2016 Harendra Guturu, Sandeep Chinchali, Shoa L. Clarke, Gill Bejerano
Image credit
10.1371/journal.pone.0121644

PLOS ONE Population Genomic Analysis of 962 Whole Genome Sequences of Humans Reveals Natural Selection in Non-Coding Regions
March 25, 2015 Fuli Yu, Jian Lu, Xiaoming Liu, Elodie Gazave, Diana Chang, Srilakshmi Raj, Haley Hunter-Zinck, Ran Blekhman, Leonardo Arbiza, Cris Van Hout, Alanna Morrison, Andrew D. Johnson, Joshua Bis, L. Adrienne Cupples, Bruce M. Psaty, Donna Muzny, Jin Yu, Richard A. Gibbs, Alon Keinan, Andrew G. Clark, Eric Boerwinkle
Image credit
10.1371/journal.pgen.1006616

PLOS Genetics Investigating the case of human nose shape and climate adaptation
March 16, 2017 Arslan A. Zaidi, Brooke C. Mattern, Peter Claes, Brian McEcoy, Cris Hughes, Mark D. Shriver
Image credit
10.1371/journal.pgen.1005602

PLOS Genetics Genomic Insights into the Ancestry and Demographic History of South America
December 4, 2015 Julian R. Homburger, Andrés Moreno-Estrada, Christopher R. Gignoux, Dominic Nelson, Elena Sanchez, Patricia Ortiz-Tello, Bernardo A. Pons-Estel, Eduardo Acevedo-Vasquez, Pedro Miranda, Carl D. Langefeld, Simon Gravel, Marta E. Alarcón-Riquelme, Carlos D. Bustamante

The Role of Mitochondrial DNA in Disease

Image credit
10.1371/journal.pone.0148709

PLOS ONE GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction
February 11, 2016 Raquel Montero, Delia Yubero, Joan Villarroya, Desiree Henares, Cristina Jou, Maria Angeles Rodríguez, Federico Ramos, Andrés Nascimento, Carlos Ignacio Ortez, Jaume Campistol, Belen Perez-Dueñas, Mar O'Callaghan, Mercedes Pineda, Angeles Garcia-Cazorla, Jaume Colomer Oferil, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador, Marija Meznaric, Laura Campderros, Susana G. Kalko, Francesc Villarroya, Rafael Artuch, Cecilia Jimenez-Mallebrera
Image credit
10.1371/journal.pone.0094882

PLOS ONE Mitochondrial DNA Variants in Obesity
May 2, 2014 Nadja Knoll, Ivonne Jarick, Anna-Lena Volckmar, Martin Klingenspor, Thomas Illig, Harald Grallert, Christian Gieger, Heinz-Erich Wichmann, Annette Peters, Susanna Wiegand, Heike Biebermann, Pamela Fischer-Posovszky, Martin Wabitsch, Henry Völzke, Matthias Nauck, Alexander Teumer, Dieter Rosskopf, Christian Rimmbach, Stefan Schreiber, Gunnar Jacobs, Wolfgang Lieb, Andre Franke, Johannes Hebebrand, Anke Hinney

Regulation of Gene Expression

Image credit
10.1371/journal.pone.0109443

PLOS ONE Promoter Analysis Reveals Globally Differential Regulation of Human Long Non-Coding RNA and Protein-Coding Genes
October 2, 2014 Tanvir Alam, Yulia A. Medvedeva, Hui Jia, James B. Brown, Leonard Lipovich, Vladimir B. Bajic
Image credit
10.1371/journal.pcbi.1004220

PLOS Computational Biology Sharing and Specificity of Co-expression Networks across 35 Human Tissues
May 13, 2015 Emma Pierson, the GTEx Consortium , Daphne Koller, Alexis Battle, Sara Mostafavi

Genetic Association Studies

Image credit
10.1371/journal.pgen.1006149

PLOS Genetics Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology
August 25, 2016 John R. Shaffer, Ekaterina Orlova, Myoung Keun Lee, Elizabeth J. Leslie, Zachary D. Raffensperger, Carrie L. Heike, Michael L. Cunningham, Jacqueline T. Hecht, Chung How Kau, Nichole L. Nidey, Lina M. Moreno, George L. Wehby, Jeffrey C. Murray, Cecelia A. Laurie, Cathy C. Laurie, Joanne Cole, Tracey Ferrara, Stephanie Santorico, Ophir Klein, Washington Mio, Eleanor Feingold, Benedikt Hallgrimsson, Richard A. Spritz, Mary L. Marazita, Seth M. Weinberg
Image credit
10.1371/journal.pone.0153611

PLOS ONE Serum 25-Hydroxyvitamin D Status and Longitudinal Changes in Weight and Waist Circumference: Influence of Genetic Predisposition to Adiposity
April 14, 2016 Sofus C. Larsen, Lars Ängquist, Max Moldovan, Ville Huikari, Sylvain Sebert, Alana Cavadino, Tarunveer Singh Ahluwalia, Tea Skaaby, Allan Linneberg, Lise Lotte N. Husemoen, Ulla Toft, Oluf Pedersen, Torben Hansen, Karl-Heinz Herzig, Marjo-Riitta Jarvelin, Chris Power, Elina Hyppönen, Berit L. Heitmann, Thorkild I. A. Sørensen
Image credit
10.1371/journal.pgen.1005432

PLOS Genetics APLP2 Regulates Refractive Error and Myopia Development in Mice and Humans
August 27, 2015 Andrei V. Tkatchenko, Tatiana V. Tkatchenko, Jeremy A. Guggenheim, Virginie J. M. Verhoeven, Pirro G. Hysi, Robert Wojciechowski, Pawan Kumar Singh, Ashok Kumar, Gopal Thinakaran, Consortium for Refractive Error and Myopia (CREAM) , Cathy Williams
Image credit
10.1371/journal.pone.0112430

PLOS ONE Whole-Genome Sequencing of the World’s Oldest People
November 12, 2014 Hinco J. Gierman, Kristen Fortney, Jared C. Roach, Natalie S. Coles, Hong Li, Gustavo Glusman, Glenn J. Markov, Justin D. Smith, Leroy Hood, L. Stephen Coles, Stuart K. Kim

PLOS Collections Blog - Biology & Life Sciences

PLOS welcomes Genetics Research

Which journal is right for your work?

Learn More