Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References.

Autor: Taylor DJ; Department of Biology, Johns Hopkins University, Baltimore, Maryland, USA; email: dtaylo95@jhu.edu, rajiv.mccoy@jhu.edu, mschatz@cs.jhu.edu., Eizenga JM; Genomics Institute, University of California, Santa Cruz, California, USA; email: jeizenga@ucsc.edu, khmiga@ucsc.edu, bpaten@ucsc.edu., Li Q; Department of Computer Science, Johns Hopkins University, Baltimore, Maryland, USA; email: qli111@jh.edu, arun.das@jhu.edu., Das A; Department of Computer Science, Johns Hopkins University, Baltimore, Maryland, USA; email: qli111@jh.edu, arun.das@jhu.edu., Jenike KM; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; email: kjenike1@jh.edu., Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA; email: eimear.kenny@mssm.edu., Miga KH; Department of Biomolecular Engineering, University of California, Santa Cruz, California, USA.; Genomics Institute, University of California, Santa Cruz, California, USA; email: jeizenga@ucsc.edu, khmiga@ucsc.edu, bpaten@ucsc.edu., Monlong J; Institut de Recherche en Santé Digestive, Université de Toulouse, INSERM, INRA, ENVT, UPS, Toulouse, France; email: jean.monlong@inserm.fr., McCoy RC; Department of Biology, Johns Hopkins University, Baltimore, Maryland, USA; email: dtaylo95@jhu.edu, rajiv.mccoy@jhu.edu, mschatz@cs.jhu.edu., Paten B; Department of Biomolecular Engineering, University of California, Santa Cruz, California, USA.; Genomics Institute, University of California, Santa Cruz, California, USA; email: jeizenga@ucsc.edu, khmiga@ucsc.edu, bpaten@ucsc.edu., Schatz MC; Department of Computer Science, Johns Hopkins University, Baltimore, Maryland, USA; email: qli111@jh.edu, arun.das@jhu.edu.; Department of Biology, Johns Hopkins University, Baltimore, Maryland, USA; email: dtaylo95@jhu.edu, rajiv.mccoy@jhu.edu, mschatz@cs.jhu.edu.

Publikováno v: Annual review of genomics and human genetics [Annu Rev Genomics Hum Genet] 2024 Aug; Vol. 25 (1), pp. 77-104. Date of Electronic Publication: 2024 Aug 06.

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.

Autor: Gustafson JA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.; Molecular and Cellular Biology Program, University of Washington, Seattle, Washington 98195, USA., Gibson SB; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA., Damaraju N; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.; Institute for Public Health Genetics, University of Washington, Seattle, Washington 98195, USA., Zalusky MPG; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Hoekzema K; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA., Twesigomwe D; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa., Yang L; Pacific Northwest Research Institute, Seattle, Washington 98122, USA., Snead AA; Department of Biology, New York University, New York, New York 10003, USA., Richmond PA; Alamya Health, Baton Rouge, Louisiana 70806, USA., De Coster W; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp 2650, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp 2000, Belgium., Olson ND; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA., Guarracino A; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA.; Human Technopole, Milan 20157, Italy., Li Q; Department of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA., Miller AL; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Goffena J; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Anderson ZB; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Storz SHR; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Ward SA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Sinha M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA., Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Mexico City 76230, Mexico., Clarke WE; New York Genome Center, New York, New York 10013, USA.; Outlier Informatics Inc., Saskatoon, Saskatchewan S7H 1L4, Canada., Basile AO; New York Genome Center, New York, New York 10013, USA., Corvelo A; New York Genome Center, New York, New York 10013, USA., Reeves C; New York Genome Center, New York, New York 10013, USA., Helland A; New York Genome Center, New York, New York 10013, USA., Musunuri RL; New York Genome Center, New York, New York 10013, USA., Revsine M; Department of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA., Patterson KE; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA., Paschal CR; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington 98195, USA.; Department of Laboratories, Seattle Children's Hospital, Seattle, Washington 98195, USA., Zakarian C; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA., Goodwin S; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA., Jensen TD; Department of Genetics, Stanford University, Stanford, California 94305, USA., Robb E; Department of Computer Science, Stanford University, Stanford, California 94305, USA., McCombie WR; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Department of Computer Science, Rice University, Houston, Texas 77251, USA., Zook JM; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, Maryland 20899, USA., Montgomery SB; Department of Genetics, Stanford University, Stanford, California 94305, USA., Garrison E; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA., Kolmogorov M; Cancer Data Science Laboratory, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA., Schatz MC; Human Technopole, Milan 20157, Italy., McLaughlin RN Jr; Molecular and Cellular Biology Program, University of Washington, Seattle, Washington 98195, USA.; Pacific Northwest Research Institute, Seattle, Washington 98122, USA., Dashnow H; Department of Human Genetics, University of Utah, Salt Lake City, Utah 84112, USA.; Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, Colorado 80045, USA., Zody MC; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Mexico City 76230, Mexico., Loose M; Deep Seq, School of Life Sciences, University of Nottingham, Nottingham NG7 2TQ, UK., Jain M; Department of Bioengineering, Northeastern University, Boston, Massachusetts 02115, USA.; Department of Physics, Northeastern University, Boston, Massachusetts 02115, USA.; Khoury College of Computer Sciences, Northeastern University, Boston, Massachusetts 02115, USA., Eichler EE; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, Washington 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA., Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA; dm1@uw.edu.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington 98195, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, Washington 98195, USA.

Publikováno v: Genome research [Genome Res] 2024 Nov 20; Vol. 34 (11), pp. 2061-2073. Date of Electronic Publication: 2024 Nov 20.

Local Ancestry Inference Based on Population-Specific Single-Nucleotide Polymorphisms-A Study of Admixed Populations in the 1000 Genomes Project.

Autor: Fu H; School of Telecommunications Engineering, Xidian University, 2 South Taibai Road, Xi'an 710071, China., Shi G; School of Telecommunications Engineering, Xidian University, 2 South Taibai Road, Xi'an 710071, China.

Publikováno v: Genes [Genes (Basel)] 2024 Aug 21; Vol. 15 (8). Date of Electronic Publication: 2024 Aug 21.

A harmonized public resource of deeply sequenced diverse human genomes.

Autor: Koenig Z; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA., Yohannes MT; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA., Nkambule LL; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA., Zhao X; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA., Goodrich JK; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Kim HA; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Wilson MW; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Tiao G; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Hao SP; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA., Sahakian N; Broad Genomics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, 02141, USA., Chao KR; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Walker MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Data Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Lyu Y; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts 02115, USA., Rehm HL; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA., Neale BM; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Talkowski ME; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA., Daly MJ; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Department of Medicine, Harvard Medical School, Boston, Massachusetts 02115, USA.; Institute for Molecular Medicine Finland, 00290 Helsinki, Finland., Brand H; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA., Karczewski KJ; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Atkinson EG; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA., Martin AR; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA; armartin@broadinstitute.org.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

Publikováno v: Genome research [Genome Res] 2024 Jun 25; Vol. 34 (5), pp. 796-809. Date of Electronic Publication: 2024 Jun 25.

The Egypt Genome Project.

Autor: Elmonem MA; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt. mohamed.abdelmonem@kasralainy.edu.eg.; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt. mohamed.abdelmonem@kasralainy.edu.eg., Soliman NA; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt. neveenase@yahoo.com.; Department of Pediatrics, Center for Pediatric Nephrology and Transplantation (CPNT), Faculty of Medicine, Cairo University, Cairo, Egypt. neveenase@yahoo.com., Moustafa A; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.; Departments of Biology and Bioinformatics and Integrative Genomics Laboratory, American University in Cairo, Cairo, Egypt., Gad YZ; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Center, Cairo, Egypt.; Ancient DNA laboratory, National Museum of Egyptian Civilization, Cairo, Egypt., Hassan WA; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., Taha T; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt., El-Feky G; Academy of Scientific Research and Technology, Cairo, Egypt., Sakr M; Academy of Scientific Research and Technology, Cairo, Egypt., Amer K; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, Egypt.

Publikováno v: Nature genetics [Nat Genet] 2024 Jun; Vol. 56 (6), pp. 1035-1037.