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Academic Journal

AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.

  • Authors : Birgmeier J; Department of Computer Science, Stanford University, Stanford, CA 94305, USA.; Haeussler M

Subjects: Exome*; Child ; Genotype

  • Source: Science translational medicine [Sci Transl Med] 2020 May 20; Vol. 12 (544).Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication

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Academic Journal

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

  • Authors : Soden SE; Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA. Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO 64108, USA. School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA. .; Saunders CJ

Subjects: Exome* ; Genome*; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*diagnosis

  • Source: Science translational medicine [Sci Transl Med] 2014 Dec 03; Vol. 6 (265), pp. 265ra168.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication

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Academic Journal

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

  • Authors : Dewey FE; Regeneron Genetics Center, Tarrytown, NY 10591, USA. .; Murray MF

Subjects: Delivery of Health Care, Integrated* ; Electronic Health Records* ; High-Throughput Nucleotide Sequencing*

  • Source: Science (New York, N.Y.) [Science] 2016 Dec 23; Vol. 354 (6319).Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication

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Academic Journal

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

Subjects: Genetic Predisposition to Disease*; Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/*genetics ; Autophagy/Autophagy/Autophagy/*genetics

  • Source: Science (New York, N.Y.) [Science] 2015 Mar 27; Vol. 347 (6229), pp. 1436-41. Date of Electronic Publication: 2015 Feb 19.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication

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Academic Journal

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

  • Authors : Novarino G; Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.; Fenstermaker AG

Subjects: Genetic Association Studies*; Exome/Exome/Exome/*genetics ; Motor Neuron Disease/Motor Neuron Disease/Motor Neuron Disease/*genetics

  • Source: Science (New York, N.Y.) [Science] 2014 Jan 31; Vol. 343 (6170), pp. 506-511.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication

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Academic Journal

Mutational signature of aristolochic acid exposure as revealed by whole-exome sequencing.

  • Authors : Hoang ML; Ludwig Center for Cancer Genetics and Therapeutics and the Howard Hughes Medical Institute at Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA.; Chen CH

Subjects: Sequence Analysis, DNA*; Aristolochic Acids/Aristolochic Acids/Aristolochic Acids/*adverse effects ; Exome/Exome/Exome/*genetics

  • Source: Science translational medicine [Sci Transl Med] 2013 Aug 07; Vol. 5 (197), pp. 197ra102.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication

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Academic Journal

Exome sequencing can improve diagnosis and alter patient management.

  • Authors : Dixon-Salazar TJ; Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children's Hospital, University of California, San Diego, San Diego, CA 92093, USA.; Silhavy JL

Subjects: Exome/Exome/Exome/*genetics; Female ; Humans

  • Source: Science translational medicine [Sci Transl Med] 2012 Jun 13; Vol. 4 (138), pp. 138ra78.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication

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Academic Journal

Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity.

Subjects: Body Mass Index*; Exome/Exome/Exome/*genetics ; Obesity/Obesity/Obesity/*genetics

  • Source: Science (New York, N.Y.) [Science] 2021 Jul 02; Vol. 373 (6550).Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication

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Academic Journal

Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

Subjects: Evolution, Molecular* ; Exome* ; Genetic Variation*

  • Source: Science (New York, N.Y.) [Science] 2012 Jul 06; Vol. 337 (6090), pp. 64-9. Date of Electronic Publication: 2012 May 17.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication

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Academic Journal

Evolution. The hidden codes that shape protein evolution.

  • Authors : Weatheritt RJ; MRC Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge CB2 0QH, UK.; Babu MM

Subjects: Evolution, Molecular* ; Exome* ; Exons*

  • Source: Science (New York, N.Y.) [Science] 2013 Dec 13; Vol. 342 (6164), pp. 1325-6.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication

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  • 1-10 of  960 results for ""Exome""