Authors : Huang Y; West China Second University Hospital, Sichuan University, Chengdu, Sichuan, 610041, P.R. China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, 610041, P.R. China.

Subjects: Exome* ; Polymorphism, Single Nucleotide*; Humans

Source: BMC genomics [BMC Genomics] 2024 Feb 05; Vol. 25 (1), pp. 142. Date of Electronic Publication: 2024 Feb 05.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164

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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

Authors : AlAbdi L; Department of Zoology, Collage of Science, King Saud University, Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Subjects: Exome* ; Inheritance Patterns*; Infant, Newborn

Source: Genome medicine [Genome Med] 2023 Dec 14; Vol. 15 (1), pp. 114. Date of Electronic Publication: 2023 Dec 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X

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Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.

Authors : Rodríguez-Solana P; Molecular Ophthalmology Section, Institute of Medical and Molecular Genetics (INGEMM), IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.; Arruti N

Subjects: Cataract*/Cataract*/Cataract*/diagnosis ; Cataract*/Cataract*/Cataract*/genetics ; Exome*/Exome*/Exome*/genetics

Source: International journal of molecular sciences [Int J Mol Sci] 2023 Jul 13; Vol. 24 (14). Date of Electronic Publication: 2023 Jul 13.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Whole exome sequencing study identifies candidate loss of function variants and locus heterogeneity in familial cholesteatoma.

Authors : Cardenas R; Norwich Medical School, University of East Anglia, Norwich, United Kingdom.; Prinsley P

Subjects: Physical Therapy Modalities* ; Exome*/Exome*/Exome*/genetics; Humans

Source: PloS one [PLoS One] 2023 Mar 15; Vol. 18 (3), pp. e0272174. Date of Electronic Publication: 2023 Mar 15 (Print Publication: 2023).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation.

Authors : Lucas-Sánchez M; Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-Universitat Pompeu Fabra), Universitat Pompeu Fabra, Barcelona, Spain.; Font-Porterias N

Subjects: Exome* ; Exome Sequencing*; Arabs/Arabs/Arabs/*genetics

Source: Scientific reports [Sci Rep] 2021 Oct 26; Vol. 11 (1), pp. 21125. Date of Electronic Publication: 2021 Oct 26.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning.

Authors : Tan R; Department of Systems Biology, Columbia University, New York, NY 10032, USA.; Shen Y

Subjects: Exome*/Exome*/Exome*/genetics ; DNA Copy Number Variations*; Humans

Source: Nucleic acids research [Nucleic Acids Res] 2022 Nov 28; Vol. 50 (21), pp. e123.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Authors : Rauf B; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Maumenee 809, Baltimore, MD, 21287, USA.; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.

Subjects: Exome*/Exome*/Exome*/genetics ; Glaucoma*/Glaucoma*/Glaucoma*/congenital ; Glaucoma*/Glaucoma*/Glaucoma*/genetics

Source: Scientific reports [Sci Rep] 2022 Oct 14; Vol. 12 (1), pp. 17218. Date of Electronic Publication: 2022 Oct 14.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Feasibility of a novel non-invasive swab technique for serial whole-exome sequencing of cervical tumors during chemoradiation therapy.

Authors : Bronk JK; Department of Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.; Kapadia C

Subjects: Exome* ; Uterine Cervical Neoplasms*/Uterine Cervical Neoplasms*/Uterine Cervical Neoplasms*/genetics ; Uterine Cervical Neoplasms*/Uterine Cervical Neoplasms*/Uterine Cervical Neoplasms*/therapy

Source: PloS one [PLoS One] 2022 Oct 06; Vol. 17 (10), pp. e0274457. Date of Electronic Publication: 2022 Oct 06 (Print Publication: 2022).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Exome Sequencing in an ADSHE Family: VUS Identification and Limits.

Authors : Villa C; School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.; Arrigoni F

Subjects: Epilepsy* ; Exome*; Humans

Source: International journal of environmental research and public health [Int J Environ Res Public Health] 2022 Oct 01; Vol. 19 (19). Date of Electronic Publication: 2022 Oct 01.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101238455 Publication Model: Electronic Cited Medium: Internet ISSN: 1660-4601

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Exploiting adaptive immune receptor recombination read recoveries from exome files to identify subsets of ALL and to establish TCR features that correlate with better outcomes.

Authors : Gozlan EC; Department of Molecular Medicine, Morsani College of Medicine, University of South Florida, Tampa, Florida, USA.; Chobrutskiy BI

Subjects: Exome* ; T-Lymphocytes*; Complementarity Determining Regions

Source: International journal of laboratory hematology [Int J Lab Hematol] 2022 Oct; Vol. 44 (5), pp. 883-891. Date of Electronic Publication: 2022 May 09.Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 101300213 Publication Model: Print-Electronic Cited Medium:

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