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Academic Journal

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Subjects: Epilepsy*/Epilepsy*/Epilepsy*/genetics ; Genetic Predisposition to Disease*/Genetic Predisposition to Disease*/Genetic Predisposition to Disease*/genetics ; Exome Sequencing*

  • Source: Nature neuroscience [Nat Neurosci] 2024 Oct; Vol. 27 (10), pp. 1864-1879. Date of Electronic Publication: 2024 Oct 03.Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print-Electronic

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Academic Journal

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Subjects: Rare Diseases*/Rare Diseases*/Rare Diseases*/genetics ; Exome*; Humans

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Feb; Vol. 32 (2), pp. 200-208. Date of Electronic Publication: 2023 Oct 19.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

A deep catalogue of protein-coding variation in 983,578 individuals.

Subjects: Exome*/Exome*/Exome*/genetics ; Genetic Variation*/Genetic Variation*/Genetic Variation*/genetics ; Proteins*/Proteins*/Proteins*/genetics

  • Source: Nature [Nature] 2024 Jul; Vol. 631 (8021), pp. 583-592. Date of Electronic Publication: 2024 May 20.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited

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Academic Journal

Genome interpretation in a federated learning context allows the multi-center exome-based risk prediction of Crohn's disease patients.

Subjects: Exome*/Exome*/Exome*/genetics ; Crohn Disease*/Crohn Disease*/Crohn Disease*/genetics; Humans

  • Source: Scientific reports [Sci Rep] 2023 Nov 09; Vol. 13 (1), pp. 19449. Date of Electronic Publication: 2023 Nov 09.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited

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Academic Journal

Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.

  • Authors : Li Q; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.

Subjects: Exome*; Phenotype ; Heterozygote

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Jun; Vol. 31 (6), pp. 712-715. Date of Electronic Publication: 2023 Jan 23.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Parents' understanding of genome and exome sequencing for pediatric health conditions: a systematic review.

  • Authors : Gereis J; School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Sydney, NSW, Australia.; Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital, Sydney, NSW, Australia.

Subjects: Exome* ; Parents*/Parents*/Parents*/psychology; Child

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Nov; Vol. 30 (11), pp. 1216-1225. Date of Electronic Publication: 2022 Aug 23.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Editorial & Opinion

Exome sequencing-one test to rule them all?

  • Authors : McNeill A; Department of Neuroscience, The University of Sheffield, Sheffield, UK. .; Sheffield Clinical Genetics Department, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK. .

Subjects: Exome*/Exome*/Exome*/genetics ; Genetic Testing*; Humans

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Aug; Vol. 30 (8), pp. 869.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium:

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Academic Journal

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

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Academic Journal

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

  • Authors : Ewans LJ; St Vincent's Clinical School, University of New South Wales, Sydney, NSW, Australia. .; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. .

Subjects: Exome*; Base Sequence ; Chromosome Mapping

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Oct; Vol. 30 (10), pp. 1121-1131. Date of Electronic Publication: 2022 Aug 15.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Comment on: Disease gene identification strategies for exome sequencing by Gilissen et al. 2012.

  • Authors : Baptista J; Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth, UK. .

Subjects: Exome*/Exome*/Exome*/genetics ; Genome-Wide Association Study*; Humans

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Oct; Vol. 30 (10), pp. 1100-1101. Date of Electronic Publication: 2022 Oct 03.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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