Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.

Autor: Mostovoy Y; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA., Boone PM; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Huang Y; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Garimella KV; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Tan KT; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Russell BE; Division of Genetics, Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA 90095, USA., Salani M; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., de Esch CEF; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA., Lemanski J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Curall B; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA., Hauenstein J; Bionano Genomics, Inc, San Diego, CA 92121, USA., Lucente D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Bowers T; Genomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., DeSmet T; Genomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Gabriel S; Genomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Morton CC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Departments of Obstetrics and Gynecology and of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Manchester Center for Audiology and Deafness, School of Health Sciences, University of Manchester, Manchester M13 9PL, UK., Meyerson M; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Hastie AR; Bionano Genomics, Inc, San Diego, CA 92121, USA., Gusella J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Quintero-Rivera F; Departments of Pathology, Laboratory Medicine, and Pediatrics, Division of Genetic and Genomic Medicine, University of California, Irvine, Irvine, CA 92697, USA., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA; Pediatric Surgery Research Laboratory, Department of Pediatrics, Boston, MA 02114, USA., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: mtalkowski@mgh.harvard.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Nov 05. Date of Electronic Publication: 2024 Nov 05.