Using multiplexed functional data to reduce variant classification inequities in underrepresented populations.

Autor: Dawood M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. Moez.Dawood@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Moez.Dawood@bcm.edu.; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA. Moez.Dawood@bcm.edu., Fayer S; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Pendyala S; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Medical Scientist Training Program, University of Washington, Seattle, WA, USA., Post M; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Kalra D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Patterson K; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Venner E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Muffley LA; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Fowler DM; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Department of Bioengineering, University of Washington, Seattle, WA, USA., Rubin AF; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Plon SE; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Starita LM; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Robles-Espinoza CD; Laboratorio Internacional de Investigación Sobre El Genoma Humano, Universidad Nacional Autónoma de México, Campus Juriquilla, Querétaro, Qro, Mexico.; CASM, Wellcome Sanger Institute, Hinxton, UK., Coyote-Maestas W; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, USA. willow.coyote-maestas@ucsf.edu.; Quantitative Biosciences Institute, University of California, San Francisco, USA. willow.coyote-maestas@ucsf.edu., Gallego Romero I; Human Genomics and Evolution, St Vincent's Institute of Medical Research, Fitzroy, 3065, Australia. irene.gallego@svi.edu.au.; School of BioSciences and Melbourne Integrative Genomics, The University of Melbourne, Royal Parade, Parkville, 3010, Australia. irene.gallego@svi.edu.au.; Center for Genomics, Evolution and Medicine, Institute of Genomics, University of Tartu, Riia 23B, 51010, Tartu, Estonia. irene.gallego@svi.edu.au.; Mary MacKillop Institute for Health Research, Australian Catholic University, Fitzroy, Australia. irene.gallego@svi.edu.au.

Publikováno v: Genome medicine [Genome Med] 2024 Dec 03; Vol. 16 (1), pp. 143. Date of Electronic Publication: 2024 Dec 03.

VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data.

Autor: Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lun MY; Pacific Northwest Research Institute, Seattle, WA 98122, USA., Gagarina L; Pacific Northwest Research Institute, Seattle, WA 98122, USA., Mehaffey MG; Pacific Northwest Research Institute, Seattle, WA 98122, USA., Hwang JP; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Bhamidipati SV; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Poli MC; Program of Immunogenetics and Translational Immunology, Faculty of Medicine, Clínica Alemana-Universidad del Desarrollo, Santiago, Chile., Ochoa S; Department of Pediatrics, Section of Immunology, Allergy, and Retrovirology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Chinn IK; Department of Pediatrics, Section of Immunology, Allergy, and Retrovirology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Linstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA., Carvalho CMB; Pacific Northwest Research Institute, Seattle, WA 98122, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Oct 29. Date of Electronic Publication: 2024 Oct 29.

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.

Autor: Behera S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Belyeu JR; Illumina Inc, San Diego, CA, USA.; Present Address: Pacific Biosciences, San Francisco, CA, USA., Chen X; Illumina Inc, San Diego, CA, USA.; Present Address: Pacific Biosciences, San Francisco, CA, USA., Paulin LF; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Nguyen NQH; School of Public Health, University of Texas Health Science Center, Houston, TX, USA., Newman E; Illumina Inc, San Diego, CA, USA., Mahmoud M; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Menon VK; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Genentech, San Francisco, CA, USA., Qi Q; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, USA., Joshi P; Medpace Reference Laboratories, Cincinnati, OH, USA., Marcovina S; University of Texas Southwestern Medical Center, Dallas, TX, USA., Rossi M; Illumina Inc, San Diego, CA, USA., Roller E; Illumina Inc, San Diego, CA, USA., Han J; Illumina Inc, San Diego, CA, USA., Onuchic V; Illumina Inc, San Diego, CA, USA., Avery CL; Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Ballantyne CM; Department of Medicine, Baylor College of Medicine, Houston, TX, USA., Rodriguez CJ; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, USA., Kaplan RC; Department of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, USA.; Fred Hutchinson Cancer Center, Public Health Sciences Division, Seattle, WA, USA., Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Metcalf GA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Yu B; School of Public Health, University of Texas Health Science Center, Houston, TX, USA., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; School of Public Health, University of Texas Health Science Center, Houston, TX, USA., Eberle MA; Illumina Inc, San Diego, CA, USA.; Present Address: Pacific Biosciences, San Francisco, CA, USA., Sedlazeck FJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. fritz.sedlazeck@bcm.edu.; Department of Computer Science, Rice University, Houston, TX, USA. fritz.sedlazeck@bcm.edu.

Publikováno v: BMC medical genomics [BMC Med Genomics] 2024 Oct 24; Vol. 17 (1), pp. 255. Date of Electronic Publication: 2024 Oct 24.

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.

Autor: Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX. Electronic address: daniel.calame@bcm.edu., Wong JH; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore., Panda P; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore., Nguyen DT; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore., Leong NCP; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore., Sangermano R; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA., Patankar SG; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., AlAbdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Safwat S; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ., Flannery KP; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ., Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Murali C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Kannan V; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Lotze TE; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Boys Town National Research Hospital, Boys Town, NE., Ammouri F; Boys Town National Research Hospital, Boys Town, NE; The University of Kansas Health System, Westwood, KS., Rezich B; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE., Efthymiou S; Department of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom., Alavi S; Department of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, United Kingdom., Firoozfar Z; Palindrome, Isfahan, Iran., Nasab ME; Meybod Genetic Research Center, Yazd, Iran; Yazd Welfare Organization, Yazd, Iran., Bahreini A; KaryoGen, Isfahan, Iran; Department of Human Genetics, University of Pittsburgh, PA., Ghasemi M; Department of Neurology, Isfahan University of Medical Sciences, Isfahan, Iran., Haridy NA; Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt., Goldouzi HR; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Eghbal F; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, London, United Kingdom., Begtrup A; GeneDx, Gaithersburg, MD., Elloumi H; GeneDx, Gaithersburg, MD., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait., Rodan L; Department of Neurology, Boston Children's Hospital, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Isikay S; Gaziantep Islam Science and Technology University, Medical Faculty, Department of Pediatric Neurology, Gaziantep, Turkey., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX., Ramanathan S; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA., Staton M; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA., Oberg KC; Department of Pathology and Human Anatomy, Loma Linda University School of Medicine, Loma Linda, CA., Clark RD; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA., Wenman C; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Loughlin S; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Saad R; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Ashraf T; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Male A; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Tadros S; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine Department, University College London, United Kingdom., Boostani R; Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran., Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Zaki M; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Mardi A; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Manzini MC; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ., Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX., Houlden H; Department of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Bujakowska K; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA., Maroofian R; Department of Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom., Lupski JR; Texas Children's Hospital, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, Houston, TX. Electronic address: jlupski@bcm.edu., Nguyen LN; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Immunology Program, Life Sciences Institute, National University of Singapore, Singapore; Singapore Lipidomics Incubator (SLING), Life Sciences Institute, National University of Singapore, Singapore; Cardiovascular Disease Research (CVD) Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Immunology Translational Research Program, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. Electronic address: bchnnl@nus.edu.sg.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 19, pp. 101273. Date of Electronic Publication: 2024 Sep 19.

Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32.

Autor: Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait., Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., El-Rashidy OF; Department of Pediatrics, Faculty of Medicine Ain Shams University, Cairo, Egypt., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Pacific Northwest Research Institute, Seattle, WA, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep 10. Date of Electronic Publication: 2024 Sep 10.