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Genetic sex validation for sample tracking in next-generation sequencing clinical testing.

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第一作者： Jianhong,Hu

第一单位： Baylor College of Medicine, Human Genome Sequencing Center (HGSC), Houston, TX, USA.

作者： Jianhong,Hu ^[1] ; Viktoriya,Korchina ^[1] ; Hana,Zouk ^[2] ; Maegan V,Harden ^[3] ; David,Murdock ^[4] ; Alyssa,Macbeth ^[3] ; Steven M,Harrison ^[5] ; Niall,Lennon ^[3] ; Christie,Kovar ^[1] ; Adithya,Balasubramanian ^[1] ; Lan,Zhang ^[1] ; Gauthami,Chandanavelli ^[1] ; Divya,Pasham ^[1] ; Robb,Rowley ^[6] ; Ken,Wiley ^[6] ; Maureen E,Smith ^[7] ; Adam,Gordon ^[7] ; Gail P,Jarvik ^[8] ; Patrick,Sleiman ^[9] ; Melissa A,Kelly ^[10] ; Harris T,Bland ^[11] ; Mullai,Murugan ^[1] ; Eric,Venner ^[1] ; Eric,Boerwinkle ^[12] ; eMERGE III consortium ^[13] ; Cynthia,Prows ^[14] ; Lisa,Mahanta ^[5] ; Heidi L,Rehm ^[1] ; Richard A,Gibbs ^[15] ; Donna M,Muzny

作者单位： Baylor College of Medicine, Human Genome Sequencing Center (HGSC), Houston, TX, USA. ^[1] Laboratory for Molecular Medicine (LMM), Mass General Brigham, Cambridge, MA, USA.;Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. ^[2] Broad Institute of MIT and Harvard, Cambridge, MA, USA. ^[3] Baylor College of Medicine, Human Genome Sequencing Center (HGSC), Houston, TX, USA.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. ^[4] Laboratory for Molecular Medicine (LMM), Mass General Brigham, Cambridge, MA, USA.;Broad Institute of MIT and Harvard, Cambridge, MA, USA. ^[5] Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, MD, USA. ^[6] Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. ^[7] Division of Medical Genetics, Department of Medicine, University of Washington Medical Center, Seattle, WA, USA. ^[8] Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. ^[9] Genomic Medicine Institute, Geisinger, Danville, PA, USA. ^[10] Vanderbilt University Medical Center, Nashville, TN, USA. ^[11] Baylor College of Medicine, Human Genome Sequencing Center (HGSC), Houston, TX, USA.;Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, USA. ^[12] Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. ^[13] Laboratory for Molecular Medicine (LMM), Mass General Brigham, Cambridge, MA, USA. ^[14] Baylor College of Medicine, Human Genome Sequencing Center (HGSC), Houston, TX, USA. donnam@bcm.edu. ^[15]

关键词 Clinical testing Next-generation sequencing (NGS)SNP genotyping Sex concordance

医学主题词人类(Humans);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);骨髓移植(Bone Marrow Transplantation);基因型(Genotype);实验室(Laboratories)

DOI 10.1186/s13104-024-06723-w

PMID 38433186

发布时间 2026-03-07

基金项目