Truvari: refined structural variant comparison preserves allelic diversity von English, Adam C, Menon, Vipin K, Gibbs, Richard A, Metcalf, Ginger A, Sedlazeck, Fritz J

Volltext

The gut mycobiome of the Human Microbiome Project healthy cohort von Nash, Andrea K, Auchtung, Thomas A, Wong, Matthew C, Smith, Daniel P, Gesell, Jonathan R, Ross, Matthew C, Stewart, Christopher J, Metcalf, Ginger A, Muzny, Donna M, Gibbs, Richard A, Ajami, Nadim J, Petrosino, Joseph F

Volltext

Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program von Venner, Eric, Muzny, Donna, Smith, Joshua D, Walker, Kimberly, Neben, Cynthia L, Lockwood, Christina M, Empey, Phillip E, Metcalf, Ginger A, Kachulis, Chris, Mian, Sana, Musick, Anjene, Rehm, Heidi L, Harrison, Steven, Gabriel, Stacey, Gibbs, Richard A, Nickerson, Deborah, Zhou, Alicia Y, Doheny, Kimberly, Ozenberger, Bradley, Topper, Scott E, Lennon, Niall J

Volltext

Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study von de Vries, Paul S, Yu, Bing, Feofanova, Elena V, Metcalf, Ginger A, Brown, Michael R, Zeighami, Atefeh L, Liu, Xiaoming, Muzny, Donna M, Gibbs, Richard A, Boerwinkle, Eric, Morrison, Alanna C

Volltext

Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study von Feofanova, Elena V, Yu, Bing, Metcalf, Ginger A, Liu, Xiaoming, Muzny, Donna, Below, Jennifer E, Wagenknecht, Lynne E, Gibbs, Richard A, Morrison, Alanna C, Boerwinkle, Eric

Volltext

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk von Behera, Sairam, Belyeu, Jonathan R, Chen, Xiao, Paulin, Luis F, Nguyen, Ngoc Quynh H, Newman, Emma, Mahmoud, Medhat, Menon, Vipin K, Qi, Qibin, Joshi, Parag, Marcovina, Santica, Rossi, Massimiliano, Roller, Eric, Han, James, Onuchic, Vitor, Avery, Christy L, Ballantyne, Christie M, Rodriguez, Carlos J, Kaplan, Robert C, Muzny, Donna M, Metcalf, Ginger A, Gibbs, Richard A, Yu, Bing, Boerwinkle, Eric, Eberle, Michael A, Sedlazeck, Fritz J

Volltext

Loss-of-function variants influence the human serum metabolome von Yu, Bing, Li, Alexander H, Metcalf, Ginger A, Muzny, Donna M, Morrison, Alanna C, White, Simon, Mosley, Thomas H, Gibbs, Richard A, Boerwinkle, Eric

Volltext

Temporal development of the gut microbiome in early childhood from the TEDDY study von Stewart, Christopher J., Ajami, Nadim J., O’Brien, Jacqueline L., Hutchinson, Diane S., Smith, Daniel P., Wong, Matthew C., Ross, Matthew C., Lloyd, Richard E., Doddapaneni, HarshaVardhan, Metcalf, Ginger A., Muzny, Donna, Gibbs, Richard A., Vatanen, Tommi, Huttenhower, Curtis, Xavier, Ramnik J., Rewers, Marian, Hagopian, William, Toppari, Jorma, Ziegler, Anette-G., She, Jin-Xiong, Akolkar, Beena, Lernmark, Ake, Hyoty, Heikki, Vehik, Kendra, Krischer, Jeffrey P., Petrosino, Joseph F.

Volltext

Transmission event of SARS-CoV-2 delta variant reveals multiple vaccine breakthrough infections von Farinholt, Timothy, Doddapaneni, Harsha, Qin, Xiang, Menon, Vipin, Meng, Qingchang, Metcalf, Ginger, Chao, Hsu, Gingras, Marie-Claude, Avadhanula, Vasanthi, Farinholt, Paige, Agrawal, Charu, Muzny, Donna M, Piedra, Pedro A, Gibbs, Richard A, Petrosino, Joseph

Volltext

Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study von Smith, Hadley Stevens, Sanchez, Clarissa E., Maag, Ronald, Buentello, Alexandria, Murdock, David R., Metcalf, Ginger A., Hadley, Trevor D., Riconda, Daniel L., Boerwinkle, Eric, Wehrens, Xander H.T., Ballantyne, Christie M., Gibbs, Richard A., McGuire, Amy L., Pereira, Stacey

Volltext

Unveiling microbial diversity: harnessing long-read sequencing technology von Agustinho, Daniel P., Fu, Yilei, Menon, Vipin K., Metcalf, Ginger A., Treangen, Todd J., Sedlazeck, Fritz J.

Volltext

Structure and function of the healthy pre-adolescent pediatric gut microbiome von Hollister, Emily B, Riehle, Kevin, Luna, Ruth Ann, Weidler, Erica M, Rubio-Gonzales, Michelle, Mistretta, Toni-Ann, Raza, Sabeen, Doddapaneni, Harsha V, Metcalf, Ginger A, Muzny, Donna M, Gibbs, Richard A, Petrosino, Joseph F, Shulman, Robert J, Versalovic, James

Volltext

Leveraging Human Microbiome Features to Diagnose and Stratify Children with Irritable Bowel Syndrome von Hollister, Emily B., Oezguen, Numan, Chumpitazi, Bruno P., Luna, Ruth Ann, Weidler, Erica M., Rubio-Gonzales, Michelle, Dahdouli, Mahmoud, Cope, Julia L., Mistretta, Toni-Ann, Raza, Sabeen, Metcalf, Ginger A., Muzny, Donna M., Gibbs, Richard A., Petrosino, Joseph F., Heitkemper, Margaret, Savidge, Tor C., Shulman, Robert J., Versalovic, James

Volltext

Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors von Pankratz, Nathan, Wei, Peng, Brody, Jennifer A, Chen, Ming-Huei, de Vries, Paul S, Huffman, Jennifer E, Stimson, Mary Rachel, Auer, Paul L, Boerwinkle, Eric, Cushman, Mary, de Maat, Moniek P M, Folsom, Aaron R, Franco, Oscar H, Gibbs, Richard A, Haagenson, Kelly K, Hofman, Albert, Johnsen, Jill M, Kovar, Christie L, Kraaij, Robert, McKnight, Barbara, Metcalf, Ginger A, Muzny, Donna, Psaty, Bruce M, Tang, Weihong, Uitterlinden, André G, van Rooij, Jeroen G J, Dehghan, Abbas, O'Donnell, Christopher J, Reiner, Alex P, Morrison, Alanna C, Smith, Nicholas L

Volltext

Whole genome sequence analysis of serum amino acid levels von Yu, Bing, de Vries, Paul S, Metcalf, Ginger A, Wang, Zhe, Feofanova, Elena V, Liu, Xiaoming, Muzny, Donna Marie, Wagenknecht, Lynne E, Gibbs, Richard A, Morrison, Alanna C, Boerwinkle, Eric

Volltext

Inter and intra-host diversity of RSV in hematopoietic stem cell transplant adults with normal and delayed viral clearance von Avadhanula, Vasanthi, Agustinho, Daniel Paiva, Menon, Vipin Kumar, Chemaly, Roy F, Shah, Dimpy P, Qin, Xiang, Surathu, Anil, Doddapaneni, Harshavardhan, Muzny, Donna M, Metcalf, Ginger A, Cregeen, Sara Javornik, Gibbs, Richard A, Petrosino, Joseph F, Sedlazeck, Fritz J, Piedra, Pedro A

Volltext

Fully resolved assembly of Cryptosporidium parvum von Menon, Vipin K, Okhuysen, Pablo C, Chappell, Cynthia L, Mahmoud, Medhat, Mahmoud, Medhat, Meng, Qingchang, Doddapaneni, Harsha, Vee, Vanesa, Han, Yi, Salvi, Sejal, Bhamidipati, Sravya, Kottapalli, Kavya, Weissenberger, George, Shen, Hua, Ross, Matthew C, Hoffman, Kristi L, Cregeen, Sara Javornik, Muzny, Donna M, Metcalf, Ginger A, Gibbs, Richard A, Petrosino, Joseph F, Sedlazeck, Fritz J

Volltext

The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System von Feofanova, Elena Valeryevna, Zhang, Guo-Qiang, Lhatoo, Samden, Metcalf, Ginger A, Boerwinkle, Eric, Venner, Eric

Volltext

Rare Genetic Variants Associated With Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study von Holmstrom, Lauri, Chaudhary, Ninad S., Nakamura, Kotoka, Chugh, Harpriya, Uy-Evanado, Audrey, Norby, Faye, Metcalf, Ginger A., Menon, Vipin K., Yu, Bing, Boerwinkle, Eric, Chugh, Sumeet S., Akdemir, Zeynep, Kransdorf, Evan P.

Volltext

Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation von Eicher, John D., Chen, Ming-Huei, Pitsillides, Achilleas N., Lin, Honghuang, Veeraraghavan, Narayanan, Brody, Jennifer A., Metcalf, Ginger A., Muzny, Donna M., Gibbs, Richard A., Becker, Diane M., Becker, Lewis C., Faraday, Nauder, Mathias, Rasika A., Yanek, Lisa R., Boerwinkle, Eric, Adrienne Cupples, L., Johnson, Andrew D.

Volltext