Clinical Genomics
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portes grátis
Clinical Genomics
A Guide to Clinical Next Generation Sequencing
Roy, Somak; Kulkarni, Shashikant
Elsevier Science & Technology
07/2026
562
Mole
Inglês
9780323900249
Pré-lançamento - envio 15 a 20 dias após a sua edição
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Section I: Methods
1. Overview of Technical Aspects and Chemistries of Next-Generation Sequencing
2. Targeted Hybrid Capture Methods
3. Amplification-Based Methods
4. Emerging DNA Sequencing Technologies
5. Transcriptomics, RNA-Sequencing and Methylome Analysis
Section II: Bioinformatics
6. Base Calling, Read Mapping, and Coverage Analysis
7. Single Nucleotide Variant Detection Using Next Generation Sequencing
8. Insertions and Deletions (Indels)
9. Translocation Detection Using Next-Generation Sequencing
10. Copy Number Variant Detection Using Next-Generation Sequencing
11. Reference Databases for Disease Associations
12. Reporting of Clinical Genomics Test Results
13. Reporting Software
14. Constitutional Diseases: Target enrichment strategies for Targeted gene sequencing panels
15. Targeted Hybrid Capture for Inherited Disease Panels
16. Constitutional Disorders: Whole Exome and Whole Genome Sequencing
17. Somatic Diseases (Cancer): Amplification-Based Next-Generation Sequencing
18. Targeted Hybrid-Capture for Somatic Mutation Detection in the Clinic
19. Somatic Diseases (Cancer): Whole Exome and Whole Genome Sequencing
20. Assay Validation
21. Regulatory Considerations Related to Clinical Next Generation Sequencing
22. Genomic Reference Materials for Clinical Applications
23. Ethical Challenges in Clinical Genomics
24. Legal Issues
25. Billing and Reimbursement
Section III: Clinical Informatics and IT Infrastructure
26. Cloud Computing for Clinical NGS Testing
Section III: Interpretation
27. Bioinformatics of Long Read Sequencing
Section IV: Regulation, Reimbursement, and Legal Issues
28. Business aspect of Precision Genomic Medicine
29. Driving precision medicine through genomics-EHR integration
1. Overview of Technical Aspects and Chemistries of Next-Generation Sequencing
2. Targeted Hybrid Capture Methods
3. Amplification-Based Methods
4. Emerging DNA Sequencing Technologies
5. Transcriptomics, RNA-Sequencing and Methylome Analysis
Section II: Bioinformatics
6. Base Calling, Read Mapping, and Coverage Analysis
7. Single Nucleotide Variant Detection Using Next Generation Sequencing
8. Insertions and Deletions (Indels)
9. Translocation Detection Using Next-Generation Sequencing
10. Copy Number Variant Detection Using Next-Generation Sequencing
11. Reference Databases for Disease Associations
12. Reporting of Clinical Genomics Test Results
13. Reporting Software
14. Constitutional Diseases: Target enrichment strategies for Targeted gene sequencing panels
15. Targeted Hybrid Capture for Inherited Disease Panels
16. Constitutional Disorders: Whole Exome and Whole Genome Sequencing
17. Somatic Diseases (Cancer): Amplification-Based Next-Generation Sequencing
18. Targeted Hybrid-Capture for Somatic Mutation Detection in the Clinic
19. Somatic Diseases (Cancer): Whole Exome and Whole Genome Sequencing
20. Assay Validation
21. Regulatory Considerations Related to Clinical Next Generation Sequencing
22. Genomic Reference Materials for Clinical Applications
23. Ethical Challenges in Clinical Genomics
24. Legal Issues
25. Billing and Reimbursement
Section III: Clinical Informatics and IT Infrastructure
26. Cloud Computing for Clinical NGS Testing
Section III: Interpretation
27. Bioinformatics of Long Read Sequencing
Section IV: Regulation, Reimbursement, and Legal Issues
28. Business aspect of Precision Genomic Medicine
29. Driving precision medicine through genomics-EHR integration
Este título pertence ao(s) assunto(s) indicados(s). Para ver outros títulos clique no assunto desejado.
Alignment; Alignment and coverage; Amplicon-based NGS; Amplification-based sequencing; Amplification-based target enrichment; AnVIL; Analyte-specific proficiency testing; Assay design; Assay validation; Association for molecular pathology; BRCA1; BRCA2; Base calling; Bayh-Dole; Benchmark regions; Benchmark variants; Billing; Bioinformatic tools and sequence analysis; Bioinformatics; Bioinformatics analysis; Burrows Wheeler transform (BWT); CLIA '88; CPT code; Cancer sequencing; Cancers; Chromosomal rearrangements; ClinVar; Clinical reporting; Cloud computing; Constitutional disorder; Container; Copy number alterations; DNA; DNA repeat expansion; DNA sequencing; DNA sequencing technologies; Data privacy; Data reanalysis and data reinterpretation; DbGaP; DbSNP; DbVar; De novo assembly; Deep sequencing and sequence analysis; Depth of sequencing; Differential expression; Disease; Disease-targeted sequencing; Equity; Ethics; Eugenics; Exome; Exome sequencing; Fluorescence in situ hybridization; Food and Drug Administration (FDA); Formalin-fixed; Formalin-fixed paraffin-embedded (FFPE); Frameshift mutation; Fusion; GINA; GWAS and ClinGen; Gene panel; Gene patents; Genetic Information Nondiscrimination Act; Genetic discrimination; Genetic exceptionalism; Genome; Genome sequencing; Genomic alteration; Genomic medicine; Genomics; Genomics-EHR integration; GnomAD; Healthcare provider; Hippocrates; Human genetic diseases; Hybrid capture; Hybrid-target capture; Hybridization capture; Hybridization-based target enrichment; ICD code; In silico-based proficiency testing; Incidental finding; Indel mutation; Information technology; Informed consent; Infrastructure as a service; Insertion-deletion mutation; Laboratory information system; Laboratory report; Laboratory-developed test (LDT); Library complexity; Long reads; Loss of heterozygosity; Massively parallel sequencing; Mayo v Prometheus; MedGen; Medical laboratory technologies; Mendelian disorder; Methods-based proficiency testing; Microsatellite instability
Section I: Methods
1. Overview of Technical Aspects and Chemistries of Next-Generation Sequencing
2. Targeted Hybrid Capture Methods
3. Amplification-Based Methods
4. Emerging DNA Sequencing Technologies
5. Transcriptomics, RNA-Sequencing and Methylome Analysis
Section II: Bioinformatics
6. Base Calling, Read Mapping, and Coverage Analysis
7. Single Nucleotide Variant Detection Using Next Generation Sequencing
8. Insertions and Deletions (Indels)
9. Translocation Detection Using Next-Generation Sequencing
10. Copy Number Variant Detection Using Next-Generation Sequencing
11. Reference Databases for Disease Associations
12. Reporting of Clinical Genomics Test Results
13. Reporting Software
14. Constitutional Diseases: Target enrichment strategies for Targeted gene sequencing panels
15. Targeted Hybrid Capture for Inherited Disease Panels
16. Constitutional Disorders: Whole Exome and Whole Genome Sequencing
17. Somatic Diseases (Cancer): Amplification-Based Next-Generation Sequencing
18. Targeted Hybrid-Capture for Somatic Mutation Detection in the Clinic
19. Somatic Diseases (Cancer): Whole Exome and Whole Genome Sequencing
20. Assay Validation
21. Regulatory Considerations Related to Clinical Next Generation Sequencing
22. Genomic Reference Materials for Clinical Applications
23. Ethical Challenges in Clinical Genomics
24. Legal Issues
25. Billing and Reimbursement
Section III: Clinical Informatics and IT Infrastructure
26. Cloud Computing for Clinical NGS Testing
Section III: Interpretation
27. Bioinformatics of Long Read Sequencing
Section IV: Regulation, Reimbursement, and Legal Issues
28. Business aspect of Precision Genomic Medicine
29. Driving precision medicine through genomics-EHR integration
1. Overview of Technical Aspects and Chemistries of Next-Generation Sequencing
2. Targeted Hybrid Capture Methods
3. Amplification-Based Methods
4. Emerging DNA Sequencing Technologies
5. Transcriptomics, RNA-Sequencing and Methylome Analysis
Section II: Bioinformatics
6. Base Calling, Read Mapping, and Coverage Analysis
7. Single Nucleotide Variant Detection Using Next Generation Sequencing
8. Insertions and Deletions (Indels)
9. Translocation Detection Using Next-Generation Sequencing
10. Copy Number Variant Detection Using Next-Generation Sequencing
11. Reference Databases for Disease Associations
12. Reporting of Clinical Genomics Test Results
13. Reporting Software
14. Constitutional Diseases: Target enrichment strategies for Targeted gene sequencing panels
15. Targeted Hybrid Capture for Inherited Disease Panels
16. Constitutional Disorders: Whole Exome and Whole Genome Sequencing
17. Somatic Diseases (Cancer): Amplification-Based Next-Generation Sequencing
18. Targeted Hybrid-Capture for Somatic Mutation Detection in the Clinic
19. Somatic Diseases (Cancer): Whole Exome and Whole Genome Sequencing
20. Assay Validation
21. Regulatory Considerations Related to Clinical Next Generation Sequencing
22. Genomic Reference Materials for Clinical Applications
23. Ethical Challenges in Clinical Genomics
24. Legal Issues
25. Billing and Reimbursement
Section III: Clinical Informatics and IT Infrastructure
26. Cloud Computing for Clinical NGS Testing
Section III: Interpretation
27. Bioinformatics of Long Read Sequencing
Section IV: Regulation, Reimbursement, and Legal Issues
28. Business aspect of Precision Genomic Medicine
29. Driving precision medicine through genomics-EHR integration
Este título pertence ao(s) assunto(s) indicados(s). Para ver outros títulos clique no assunto desejado.
Alignment; Alignment and coverage; Amplicon-based NGS; Amplification-based sequencing; Amplification-based target enrichment; AnVIL; Analyte-specific proficiency testing; Assay design; Assay validation; Association for molecular pathology; BRCA1; BRCA2; Base calling; Bayh-Dole; Benchmark regions; Benchmark variants; Billing; Bioinformatic tools and sequence analysis; Bioinformatics; Bioinformatics analysis; Burrows Wheeler transform (BWT); CLIA '88; CPT code; Cancer sequencing; Cancers; Chromosomal rearrangements; ClinVar; Clinical reporting; Cloud computing; Constitutional disorder; Container; Copy number alterations; DNA; DNA repeat expansion; DNA sequencing; DNA sequencing technologies; Data privacy; Data reanalysis and data reinterpretation; DbGaP; DbSNP; DbVar; De novo assembly; Deep sequencing and sequence analysis; Depth of sequencing; Differential expression; Disease; Disease-targeted sequencing; Equity; Ethics; Eugenics; Exome; Exome sequencing; Fluorescence in situ hybridization; Food and Drug Administration (FDA); Formalin-fixed; Formalin-fixed paraffin-embedded (FFPE); Frameshift mutation; Fusion; GINA; GWAS and ClinGen; Gene panel; Gene patents; Genetic Information Nondiscrimination Act; Genetic discrimination; Genetic exceptionalism; Genome; Genome sequencing; Genomic alteration; Genomic medicine; Genomics; Genomics-EHR integration; GnomAD; Healthcare provider; Hippocrates; Human genetic diseases; Hybrid capture; Hybrid-target capture; Hybridization capture; Hybridization-based target enrichment; ICD code; In silico-based proficiency testing; Incidental finding; Indel mutation; Information technology; Informed consent; Infrastructure as a service; Insertion-deletion mutation; Laboratory information system; Laboratory report; Laboratory-developed test (LDT); Library complexity; Long reads; Loss of heterozygosity; Massively parallel sequencing; Mayo v Prometheus; MedGen; Medical laboratory technologies; Mendelian disorder; Methods-based proficiency testing; Microsatellite instability
