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

Publikováno v: Science. 8/27/2021, Vol. 373 Issue 6558, p1030-1035. 6p. 1 Diagram, 3 Graphs.

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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

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Bayesian segmentation of spatially resolved transcriptomics data

Autor: Petukhov, Viktor, Soldatov, Ruslan A., Khodosevich, Konstantin, Kharchenko, Peter V.

Publikováno v: Petukhov, V, Soldatov, R A, Khodosevich, K & Kharchenko, P V 2020 ' Bayesian segmentation of spatially resolved transcriptomics data ' Cold Spring Harbor Laboratory . https://doi.org/10.1101/2020.10.05.326777

Spatial transcriptomics is an emerging stack of technologies, which adds spatial dimension to conventional single-cell RNA-sequencing. New protocols, based on in situ sequencing or multiplexed RNA fluorescent in situ hybridization register positions

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2751::9a8c36ac92d9a0cbfb7ed428ac712974
https://curis.ku.dk/portal/da/publications/bayesian-segmentation-of-spatially-resolved-transcriptomics-data(8c7b7f30-098d-4826-a37e-58a6aca82b3d).html