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

Identification of physicochemical selective pressure on protein encoding nucleotide sequences

Autor: Sainudiin Raazesh, Wong Wendy SW, Nielsen Rasmus

Publikováno v: BMC Bioinformatics, Vol 7, Iss 1, p 148 (2006)

Abstract Background Statistical methods for identifying positively selected sites in protein coding regions are one of the most commonly used tools in evolutionary bioinformatics. However, they have been limited by not taking the physiochemical prope

Externí odkaz: https://doaj.org/article/8031401583904501b33a03d7ad8c7c36

Increased risk of rheumatoid arthritis among mothers with children who carry risk-associated alleles.

Autor: Cruz, Giovanna Ibeth, Xiaorong Shao, Hong Quach, Ho, Kimberly A., Sterba, Kirsten, Noble, Janelle A., Patsopoulos, Nikolaos A., Busch, Michael P., Triulzi, Darrell J., Wong, Wendy S. W., Solomon, Benjamin D., Niederhuber, John E., Criswell, Lindsey A., Barcellos, Lisa F., Shao, Xiaorong, Quach, Hong, Wong, Wendy Sw

Publikováno v: Annals of the Rheumatic Diseases; Aug2017, Vol. 76 Issue 8, p1405-1410, 6p, 1 Diagram, 5 Charts

Increased risk of rheumatoid arthritis among mothers with children who carry DRB1 risk-associated alleles.

Autor: Cruz GI; School of Public Health, University of California Berkeley, Berkeley, California, USA., Shao X; School of Public Health, University of California Berkeley, Berkeley, California, USA., Quach H; School of Public Health, University of California Berkeley, Berkeley, California, USA., Ho KA; Department of Medicine, University of San Francisco, Rosalind Russell/Ephraim P. Engleman Rheumatology Research Center, San Francisco, California, USA., Sterba K; Department of Medicine, University of San Francisco, Rosalind Russell/Ephraim P. Engleman Rheumatology Research Center, San Francisco, California, USA., Noble JA; Childrens Hospital Oakland Research Institute, Oakland, California, USA., Patsopoulos NA; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, USA., Busch MP; Laboratory of Medicine, Blood Systems Research Institute, San Francisco, California, USA., Triulzi DJ; Department of Pathology, University of Pittsburgh, Institute for Transfusion Medicine, Pittsburgh, Pennsylvania, USA., Wong WS; Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, Virginia, USA., Solomon BD; Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, Virginia, USA., Niederhuber JE; Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, Virginia, USA., Criswell LA; Department of Medicine, University of California, San Francisco, San Francisco, California, USA., Barcellos LF; Division of Epidemiology, School of Public Health, University of California Berkeley, Berkeley, California, USA.

Publikováno v: Annals of the rheumatic diseases [Ann Rheum Dis] 2017 Aug; Vol. 76 (8), pp. 1405-1410. Date of Electronic Publication: 2017 Apr 08.