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Academic Journal

Performance comparison of Agilent new SureSelect All Exon v8 probes with v7 probes for exome sequencing.

  • Authors : Belova V; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova str. 1, Moscow, 117997, Russian Federation. .; Shmitko A

Subjects: Exome* ; High-Throughput Nucleotide Sequencing*/High-Throughput Nucleotide Sequencing*/High-Throughput Nucleotide Sequencing*/methods; Exons

  • Source: BMC genomics [BMC Genomics] 2022 Aug 12; Vol. 23 (1), pp. 582. Date of Electronic Publication: 2022 Aug 12.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

Exome-based investigation of the genetic basis of human pigmentary glaucoma.

  • Authors : van der Heide C; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, 3111B Medical Education and Research Facility, University of Iowa, 375 Newton Road, Iowa City, IA52245, USA.; Institute for Vision Research, University of Iowa, Iowa City, IA, USA.

Subjects: Exome* ; Glaucoma, Open-Angle*/Glaucoma, Open-Angle*/Glaucoma, Open-Angle*/genetics; Animals

  • Source: BMC genomics [BMC Genomics] 2021 Jun 26; Vol. 22 (1), pp. 477. Date of Electronic Publication: 2021 Jun 26.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.

Subjects: Exome* ; Hair Color*; Aging

  • Source: BMC genomics [BMC Genomics] 2020 Aug 05; Vol. 21 (1), pp. 538. Date of Electronic Publication: 2020 Aug 05.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach.

  • Authors : Feng YA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. .; Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA, USA. .

Subjects: Exome* ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods; Genetic Variation

  • Source: BMC genomics [BMC Genomics] 2022 May 19; Vol. 23 (1), pp. 385. Date of Electronic Publication: 2022 May 19.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

The effects of sequencing depth on the assembly of coding and noncoding transcripts in the human genome.

  • Authors : Babarinde IA; Shenzhen Key Laboratory of Gene Regulation and Systems Biology, Department of Biology, School of Life Sciences, Southern University of Science and Technology, Shenzhen, 518055, China. .; Hutchins AP

Subjects: DNA Transposable Elements* ; Genome, Human*; Histocompatibility Testing

  • Source: BMC genomics [BMC Genomics] 2022 Jul 04; Vol. 23 (1), pp. 487. Date of Electronic Publication: 2022 Jul 04.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

Revealing the novel complexity of plant long non-coding RNA by strand-specific and whole transcriptome sequencing for evolutionarily representative plant species.

  • Authors : Zhu Y; Key Laboratory of Synthetic Biology, Center for Excellence in Molecular Plant Sciences/Institute of Plant Physiology and Ecology, Chinese Academy of Sciences, Shanghai, China.; Chen L

Subjects: RNA, Long Noncoding*/RNA, Long Noncoding*/RNA, Long Noncoding*/genetics; Computational Biology/Computational Biology/Computational Biology/methods ; DNA Transposable Elements

  • Source: BMC genomics [BMC Genomics] 2022 May 19; Vol. 23 (Suppl 4), pp. 381. Date of Electronic Publication: 2022 May 19.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery.

  • Authors : Barbitoff YA; Bioinformatics Institute, St. Petersburg, Russia. .; Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynaecology and Reproductology, St. Petersburg, Russia. .

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

  • Source: BMC genomics [BMC Genomics] 2022 Feb 22; Vol. 23 (1), pp. 155. Date of Electronic Publication: 2022 Feb 22.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

A joint analysis using exome and transcriptome data identifiescandidate polymorphisms and genes involved with umbilical hernia in pigs.

  • Authors : Savoldi IR; Programa de Pós-Graduação em Zootecnia, Universidade do Estado de Santa Catarina, UDESC-Oeste, Chapecó, SC, 89815-630, Brazil.; Ibelli AMG

Subjects: Hernia, Umbilical*/Hernia, Umbilical*/Hernia, Umbilical*/genetics ; Hernia, Umbilical*/Hernia, Umbilical*/Hernia, Umbilical*/veterinary; Animals

  • Source: BMC genomics [BMC Genomics] 2021 Nov 13; Vol. 22 (1), pp. 818. Date of Electronic Publication: 2021 Nov 13.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

A comparison of transcriptome analysis methods with reference genome.

  • Authors : Liu X; Department of Medical Genetics and Developmental Biology, School of Basic Medical Sciences, Capital Medical University, Beijing, China.; Beijing Key Laboratory of Neural Regeneration and Repair, Capital Medical University, Beijing, China.

Subjects: Gene Expression Profiling*/Gene Expression Profiling*/Gene Expression Profiling*/methods ; Transcriptome*; Animals

  • Source: BMC genomics [BMC Genomics] 2022 Mar 25; Vol. 23 (1), pp. 232. Date of Electronic Publication: 2022 Mar 25.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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