A complete reference genome improves analysis of human genetic variation.
Saved in:
| Title: | A complete reference genome improves analysis of human genetic variation. |
|---|---|
| Authors: | Aganezov S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Yan SM; Department of Biology, Johns Hopkins University, Baltimore, MD, USA., Soto DC; Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California, Davis, CA, USA., Kirsche M; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Zarate S; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA., Avdeyev P; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA., Taylor DJ; Department of Biology, Johns Hopkins University, Baltimore, MD, USA., Shafin K; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Shumate A; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Xiao C; National Center for Biotechnology Information, National Library of Medicine, Bethesda, MD, USA., Wagner J; National Institute of Standards and Technology, Gaithersburg, MD, USA., McDaniel J; National Institute of Standards and Technology, Gaithersburg, MD, USA., Olson ND; National Institute of Standards and Technology, Gaithersburg, MD, USA., Sauria MEG; Department of Biology, Johns Hopkins University, Baltimore, MD, USA., Vollger MR; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Rhie A; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA., Meredith M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Martin S; Department of Computer Science and Biofrontiers Institute, University of Colorado, Boulder, CO, USA., Lee J; Bionano Genomics, San Diego, CA, USA., Koren S; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA., Rosenfeld JA; Cancer Institute of New Jersey, New Brunswick, NJ, USA., Paten B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Layer R; Department of Computer Science and Biofrontiers Institute, University of Colorado, Boulder, CO, USA., Chin CS; DNAnexus, Mountain View, CA, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Hansen NF; Comparative Genomics Analysis Unit, National Human Genome Research Institute, Rockville, MD, USA., Miller DE; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Phillippy AM; Genome Informatics Section, National Human Genome Research Institute, Bethesda, MD, USA., Miga KH; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., McCoy RC; Department of Biology, Johns Hopkins University, Baltimore, MD, USA., Dennis MY; Department of Biochemistry and Molecular Medicine, Genome Center, MIND Institute, University of California, Davis, CA, USA., Zook JM; National Institute of Standards and Technology, Gaithersburg, MD, USA., Schatz MC; Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.; Department of Biology, Johns Hopkins University, Baltimore, MD, USA.; Simons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA. |
| Source: | Science (New York, N.Y.) [Science] 2022 Apr; Vol. 376 (6588), pp. eabl3533. Date of Electronic Publication: 2022 Apr 01. |
| Publication Type: | Journal Article; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S. |
| Journal Info: | Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1095-9203 |
|---|---|
| DOI: | 10.1126/science.abl3533 |
