Michael D. Kessler, Douglas P. Loesch, James A. Perry, Nancy L. Heard‐Costa, Daniel Taliun, Brian E. Cade, Heming Wang, Michelle Daya, John Ziniti, Soma Datta, Juan C. Celedón, Manuel E. Soto-Quirós, Lydiana Ávila, Scott T. Weiss, Kathleen C. Barnes, Susan Redline, Ramachandran S. Vasan, Andrew D. Johnson, Rasika A. Mathias, Ryan D. Hernandez, James G. Wilson, Deborah A. Nickerson, Gonçalo R. Abecasis, Sharon R. Browning, Sebastian Zöllner, Jeffrey R. O’Connell, Braxton D. Mitchell, Timothy D. O’Connor, Sanne E. Aalbers, Moustafa Abdalla, Omar Abdul‐Rahman, Gonçalo R. Abecasis, Avinash Abhyankar, Indra Adrianto, François Aguet, Rachel Akers, Rafet Al-Tobasei, Christine M. Albert, Micheala A. Aldred, Laura Almasy, Márcio Rodrigues de Almeida, Álvaro Alonso, Seth A. Ament, Elizabeth Ampleford, Ping An, Christopher D. Anderson, Charlotte Andersson, Pramod Anugu, Elizabeth L. Appelbaum, Kristin Ardlie, Dan Arking, Sebastian M. Armasu, Donna K. Arnett, Heather T Arruda, Marios Arvanitis, Allison E. Ashley‐Koch, Aneel A. Ashrani, Stella Aslibekyan, Tim Assimes, Elizabeth J. Atkinson, Paul L. Auer, Thomas R. Austin, Christy L. Avery, Julián Ávila-Pacheco, Paul Avillach, Abraham Aviv, Dimitrios Avramopoulos, Christie M. Ballantyne, Pallavi Balte, Michael J. Bamshad, Mike Bancks, John Barnard, Kathleen C. Barnes, R. Graham Barr, Emily Barron‐Casella, Traci M. Bartz, Lucas Barwick, Saonli Basu, Alexis Battle, Michaël Baumann, David Beame, Terri Beaty, Gerald J. Beck, Lewis C. Becker, Diane M. Becker, Rebecca Beer, Ferdouse Begum, Alexa S. Beiser, Amber L. Beitelshees, Emelia J. Benjamin, Takis Benos, Hanna Berk-Rauch, Zachary M Besich, Marcos Bezerra, Surya P. Bhatt, Wenjian Bi, Alexander G. Bick, Larry Bielak, Mary L. Biggs, Joshua C. Bis, Thomas W. Blackwell, John Blangero, Eugene Bleecker, Brandon M. Blobner, Toby Bloom, Elizabeth Blue, Corneliu Bodea, Mike Boehnke, Eric Boerwinkle, Sílvia Bonàs‐Guarch, Donald W. 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De novo mutations (DNMs), or mutations that appear in an individual despite not being seen in their parents, are an important source of genetic variation whose impact is relevant to studies of human evolution, genetics, and disease. Utilizing high-coverage whole-genome sequencing data as part of the Trans-Omics for Precision Medicine (TOPMed) Program, we called 93,325 single-nucleotide DNMs across 1,465 trios from an array of diverse human populations, and used them to directly estimate and analyze ...
National Academy of Sciences