Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Regeneron Genetics Center"'
Autor:
Aimee M. Deaton, Margaret M. Parker, Lucas D. Ward, Alexander O. Flynn-Carroll, Lucas BonDurant, Gregory Hinkle, Parsa Akbari, Luca A. Lotta, Regeneron Genetics Center, DiscovEHR Collaboration, Aris Baras, Paul Nioi
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-16 (2021)
Scientific Reports
Scientific Reports
Sequencing of large cohorts offers an unprecedented opportunity to identify rare genetic variants and to find novel contributors to human disease. We used gene-based collapsing tests to identify genes associated with glucose, HbA1c and type 2 diabete
Autor:
Robert C. Williams, William C. Knowler, Alan R. Shuldiner, Nehal Gosalia, Cristopher Van Hout, null Regeneron Genetics Center, Robert L. Hanson, Clifton Bogardus, Leslie J. Baier
Publikováno v:
Human Immunology. 80:955-965
The Pima Indians of the Gila River Indian Community in Arizona have participated in a long-range study of type 2 diabetes mellitus since 1965 and have been the subject of HLA typing and population studies since the early days of serological assays. T
Autor:
Noura S. Abul-Husn, Emily R. Soper, Jacqueline A. Odgis, Sinead Cullina, Dean Bobo, Arden Moscati, Jessica E. Rodriguez, CBIPM Genomics Team, Regeneron Genetics Center, Ruth J. F. Loos, Judy H. Cho, Gillian M. Belbin, Sabrina A. Suckiel, Eimear E. Kenny
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2019)
Genome Medicine
Genome Medicine
Background Pathogenic variants in BRCA1 and BRCA2 (BRCA1/2) lead to increased risk of breast, ovarian, and other cancers, but most variant-positive individuals in the general population are unaware of their risk, and little is known about prevalence
Autor:
Larry N Singh, Brian Ennis, Bryn Loneragan, Noah L Tsao, M Isabel G Lopez Sanchez, Jianping Li, Patrick Acheampong, Oanh Tran, Ian A Trounce, Yuankun Zhu, Prasanth Potluri, Regeneron Genetics Center, Beverly S Emanuel, Daniel J Rader, Zoltan Arany, Scott M Damrauer, Adam C Resnick, Stewart A Anderson, Douglas C Wallace
Publikováno v:
PLoS Computational Biology, Vol 17, Iss 11, p e1009594 (2021)
PLoS Computational Biology
PLoS Computational Biology
The growing number of next-generation sequencing (NGS) data presents a unique opportunity to study the combined impact of mitochondrial and nuclear-encoded genetic variation in complex disease. Mitochondrial DNA variants and in particular, heteroplas
Autor:
Tristan L. Lim, David B. Lieberman, Adam R. Davis, Ryan Hausler, Ashkan Bigdeli, Yimei Li, Jacquelyn Powers, Regeneron Genetics Center, Shannon A. Carty, Katherine L. Nathanson, Adam Bagg, Elizabeth O. Hexner, Kara N. Maxwell, Jennifer J.D. Morrissette, Daria V. Babushok
Publikováno v:
Blood. 136:2-4
Germline mutations in the shelterin component protection of telomeres 1 (POT1) were recently found to be associated with familial chronic lymphocytic leukemia (CLL), melanoma, glioma, and several other familial cancer syndromes. The role of POT1 muta
Autor:
Hye In Kim, Bin Ye, Jeffrey Staples, Anthony Marcketta, Chuan Gao, Regeneron Genetics Center, Alan R. Shuldiner, Cristopher V. Van Hout
Publikováno v:
HGG Advances, Vol 2, Iss 3, Pp 100039-(2021)
Human Genetics and Genomics Advances
Human Genetics and Genomics Advances
Summary Parent-of-origin (PoO) effects refer to the differential phenotypic impacts of genetic variants dependent on their parental inheritance due to imprinting. While PoO effects can influence complex traits, they may be poorly captured by models t
Autor:
Scott B. Snapper, Qi Li, Christoph Klein, Neil Warner, Neel Dhingani, Sasha Jardine, Claudia Gonzaga-Jauregui, Daniel Kotlarz, Aleixo M. Muise, Conghui Guo, Jie Pan, Gabriella Leung, Víctor Manuel Navas-López
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Very early onset inflammatory bowel disease (VEOIBD) denotes children with onset of IBD before six years of age. A number of monogenic disorders are associated with VEOIBD including tetratricopeptide repeat domain 7A (TTC7A) deficiency. TTC7A-deficie