Evolutionary history of modern Samoans

Autor: Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Population Genetics Working Group, Harris, Daniel N., Kessler, Michael D., Shetty, Amol C., Weeks, Daniel E., Minster, Ryan L., Browning, Sharon, Cochrane, Ethan E., Deka, Ranjan, Hawley, Nicola L., Reupena, Muagututi‘a Sefuiva, Naseri, Take, McGarvey, Stephen T., O’Connor, Timothy D.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2020 Apr . 117(17), 9458-9465.

Externí odkaz: https://www.jstor.org/stable/26929952

Workload measurement for molecular genetics laboratory: A survey study.

Autor: Enrico Tagliafico, Isabella Bernardis, Marina Grasso, Maria Rosaria D'Apice, Cristina Lapucci, Annalisa Botta, Daniela Francesca Giachino, Maria Marinelli, Paola Primignani, Silvia Russo, Ilaria Sani, Manuela Seia, Sergio Fini, Paola Rimessi, Elena Tenedini, Anna Ravani, Maurizio Genuardi, Alessandra Ferlini, Molecular Genetics Working Group of the Italian Society of Human Genetics, SIGU

Publikováno v: PLoS ONE, Vol 13, Iss 11, p e0206855 (2018)

Genetic testing availability in the health care system is rapidly increasing, along with the diffusion of next-generation sequencing (NGS) into diagnostics. These issues make imperative the knowledge-drive optimization of testing in the clinical sett

Externí odkaz: https://doaj.org/article/e0be3ab1c9574e378228b83edd270268

Population sequencing data reveal a compendium of mutational processes in the human germ line

Autor: Seplyarskiy, Vladimir B, Soldatov, Ruslan A, Koch, Evan, McGinty, Ryan J, Goldmann, Jakob M, Hernandez, Ryan D, Barnes, Kathleen, Correa, Adolfo, Burchard, Esteban G, Ellinor, Patrick T, McGarvey, Stephen T, Mitchell, Braxton D, Vasan, Ramachandran S, Redline, Susan, Silverman, Edwin, Weiss, Scott T, Arnett, Donna K, Blangero, John, Boerwinkle, Eric, He, Jiang, Montgomery, Courtney, Rao, DC, Rotter, Jerome I, Taylor, Kent D, Brody, Jennifer A, Chen, Yii-Der Ida, de Las Fuentes, Lisa, Hwu, Chii-Min, Rich, Stephen S, Manichaikul, Ani W, Mychaleckyj, Josyf C, Palmer, Nicholette D, Smith, Jennifer A, Kardia, Sharon LR, Peyser, Patricia A, Bielak, Lawrence F, O'Connor, Timothy D, Emery, Leslie S, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Population Genetics Working Group, Gilissen, Christian, Wong, Wendy SW, Kharchenko, Peter V, Sunyaev, Shamil

Publikováno v: Science (New York, N.Y.), vol 373, iss 6558

Biological mechanisms underlying human germline mutations remain largely unknown. We statistically decompose variation in the rate and spectra of mutations along the genome using volume-regularized nonnegative matrix factorization. The analysis of a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::d5291559e30017684ea2d68044decbd3
https://escholarship.org/uc/item/2b83c8gw

Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium

Autor: Paller, Channing J, Antonarakis, Emmanuel S, Beer, Tomasz M, Borno, Hala T, Carlo, Maria I, George, Daniel J, Graff, Julie N, Gupta, Shilpa, Heath, Elisabeth I, Higano, Celestia S, McKay, Rana R, Morgans, Alicia K, Patnaik, Akash, Petrylak, Daniel P, Rettig, Matthew B, Ryan, Charles J, Taplin, Mary-Ellen, Whang, Young E, Vinson, Jacob, Cheng, Heather H, Giri, Veda N, PCCTC Germline Genetics Working Group

Publikováno v: Clinical genitourinary cancer, vol 17, iss 4

BackgroundGermline genetic testing increasingly identifies advanced prostate cancer (PCa) patients who are candidates for precision therapies. The Prostate Cancer Clinical Trials Consortium (PCCTC) established the Germline Genetics Working Group to p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::e64fa775227c6d087674d886ab1ebaf1
https://escholarship.org/uc/item/9n28s6dh

Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci

Autor: Patsopoulos NA, Esposito F, Reischl J, Lehr S, Bauer D, Heubach J, Sandbrink R, Pohl C, Edan G, Kappos L, Miller D, Montalbán X, Polman CH, Freedman MS, Hartung HP, Arnason BGW, COMI , GIANCARLO, Cook S, FILIPPI , MASSIMO, Goodin DS, Jeffery D, O'Connor P, Ebers GC, Langdon D, Reder AT, Traboulsee A, Zipp F, Schimrigk J, Hillert J, Bahlo M, Booth DR, BroadleyS, Brown MA, Browning BL, Browning SR, Butzkueven H, Carroll WM, Chapman C, Foote SJ, Griffiths L, Kermode AG, Kilpatrick TJ, Lechner Scott J, Marriott M, Mason D, Moscato P, Heard RN, Pender MP, Perreau VM, Perera D, Rubio JP, Scott RJ, Slee M, Stankovich J, Stewart GJ, Taylor BV, Tubridy N, Willoughby E, Wiley J, Matthews P, Boneschi F, Compston A, Haines J, Hauser SL, McCauley J, Ivinson A, Oksenberg JR, Pericak Vance M, Sawcer SJ, De Jager PL, Hafler DA, de Bakker PIW, the BSP MS Genetics working group, the steering committees of studies evaluating IFNb 1b, a. CCR1 antagonist, ANZgene Consortium, GeneMSA, International Multiple Sclerosis Genetics Consortium

Publikováno v: Annals of Neurology, 70(6), 897-912. John Wiley and Sons Inc.
Patsopoulos, N A, Bakker, P I W & Polman, C H 2011, ' Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci ', Annals of Neurology, vol. 70, no. 6, pp. 897-912 . https://doi.org/10.1002/ana.22609

OBJECTIVE: To perform a 1-stage meta-analysis of genome-wide association studies (GWAS) of multiple sclerosis (MS) susceptibility and to explore functional consequences of new susceptibility loci. METHODS: We synthesized 7 MS GWAS. Each data set was

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ef8585134ddd788a2ca78fc05301762
https://doi.org/10.1002/ana.22609