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DeepSomatic: Accurate somatic small variant discovery for multiple sequencing technologies.

Autor: Park J; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Cook DE; Google Inc, Mountain View, CA, USA., Chang PC; Google Inc, Mountain View, CA, USA., Kolesnikov A; Google Inc, Mountain View, CA, USA., Brambrink L; Google Inc, Mountain View, CA, USA., Mier JC; Google Inc, Mountain View, CA, USA., Gardner J; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., McNulty B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Sacco S; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Keskus A; Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA., Bryant A; Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA., Ahmad T; Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA., Shetty J; Sequencing Facility, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Zhao Y; Sequencing Facility Bioinformatics Group, Biomedical Informatics and Data Science Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Tran B; Sequencing Facility, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Narzisi G; New York Genome Center, NY, USA., Helland A; New York Genome Center, NY, USA., Yoo B; Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Pushel I; Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Lansdon LA; Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Bi C; Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Walter A; Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Gibson M; Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Pastinen T; Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Farooqi MS; Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Robine N; New York Genome Center, NY, USA., Miga KH; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Carroll A; Google Inc, Mountain View, CA, USA., Kolmogorov M; Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA., Paten B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Shafin K; Google Inc, Mountain View, CA, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Aug 19. Date of Electronic Publication: 2024 Aug 19.

Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads.

Autor: Keskus A; Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA., Bryant A; Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA., Ahmad T; Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA., Yoo B; Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Aganezov S; Oxford Nanopore Technologies, NY, USA., Goretsky A; Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA.; Department of Computer Science, University of Maryland, College Park, MD, USA., Donmez A; Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA.; Department of Computer Science, University of Maryland, College Park, MD, USA., Lansdon LA; Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Rodriguez I; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA., Park J; UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA., Liu Y; Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA.; Department of Computer Science, University of Maryland, College Park, MD, USA., Cui X; Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA., Gardner J; UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA., McNulty B; UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA., Sacco S; UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA., Shetty J; Sequencing Facility, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Zhao Y; Sequencing Facility Bioinformatics Group, Biomedical Informatics and Data Science Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Tran B; Sequencing Facility, Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Narzisi G; New York Genome Center, NY, USA., Helland A; New York Genome Center, NY, USA., Cook DE; Google Inc, Mountain View, CA, USA., Chang PC; Google Inc, Mountain View, CA, USA., Kolesnikov A; Google Inc, Mountain View, CA, USA., Carroll A; Google Inc, Mountain View, CA, USA., Molloy EK; Department of Computer Science, University of Maryland, College Park, MD, USA., Pushel I; Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Guest E; Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Pastinen T; Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Shafin K; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA., Miga KH; UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA., Malikic S; Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA., Day CP; Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA., Robine N; New York Genome Center, NY, USA., Sahinalp C; Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA., Dean M; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA., Farooqi MS; Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA., Paten B; UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA., Kolmogorov M; Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Mar 26. Date of Electronic Publication: 2024 Mar 26.