Whole-genome sequencing (WGS) identifies critical alterations in the genome that are
not present in the coding genes.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribers receive full online access to your subscription and archive of back issues up to and including 2002.
Content published before 2002 is available via pay-per-view purchase only.
Subscribe:
Subscribe to Clinics in Laboratory MedicineAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Charting a course for genomic medicine from base pairs to bedside.Nature. 2011; 470: 204-213
- Next-generation sequencing: the translational medicine approach from “bench to bedside to population” (vol. 3).Medicines. 2016; 3: 14
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genet Med. 2015; 17: 405-424
- Whole genome sequencing expands diagnostic utility and improves clinical management in pediatric medicine.NPJ Genom Med. 2016; 1: 15012
- Clinical sequencing: from raw data to diagnosis with lifetime value.Clin Genet. 2018; 93: 508-519
- A hybrid approach for de novo human genome sequence assembly and phasing.Nat Methods. 2016; 13: 587
- Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.Genome Med. 2017; 9: 90
- Epigenetics in human disease and prospects for epigenetic therapy.Nature. 2004; 429: 457-463
- Epigenetics and gene expression.Heredity. 2010; 105: 4
- DNA methylation: a form of epigenetic control of gene expression.Obstet Gynaecol. 2010; 12: 37-42
- Combining MeDIP-seq and MRE-seq to investigate genome-wide CpG methylation.Methods. 2015; 72: 29-40
- DNA methylation detection: bisulfite genomic sequencing analysis.MethodsMol Biol. 2011; 791: 11-21
- Colorectal cancer screening: an updated review of the available options.World J Gastroenterol. 2017; 23: 5086-5096
- Clinical validation of fragile X syndrome screening by DNA methylation array.J Mol Diagn. 2016; 18: 834-841
- NSD1 mutations generate a genome-wide DNA methylation signature.Nat Commun. 2015; 6: 10207
- Genomic DNA methylation signatures enable concurrent diagnosis and clinical genetic variant classification in neurodevelopmental syndromes.Am J Hum Genet. 2018; 102: 156-174
- BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes.Nat Commun. 2018; 9: 4885
- Diagnostic utility of genome-wide DNA methylation testing in genetically unsolved individuals with suspected hereditary conditions.Am J Hum Genet. 2019; https://doi.org/10.1016/j.ajhg.2019.03.008
Genome web, April 2019. Available at: https://www.genomeweb.com/molecular-diagnostics/first-epigenetic-signature-test-inherited-disorders-launch-us-europe. Accessed July 22, 2019.
- Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants.Ann Transl Med. 2018; 6: 126
- Translating RNA sequencing into clinical diagnostics: opportunities and challenges.Nat Rev Genet. 2016; 17: 257
- Genetic diagnosis of Mendelian disorders via RNA sequencing.Nat Commun. 2017; 8: 15824
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.Sci Transl Med. 2017; 9 ([pii:eaal5209])
- Expanding the boundaries of RNA sequencing as a diagnostic tool for rare mendelian disease.Am J Hum Genet. 2019; 104: 466-483
GTEx portal. Available at: https://gtexportal.org/home/. Accessed July 22, 2019.
- MetaboAnalyst 4.0: towards more transparent and integrative metabolomics analysis.Nucleic Acids Res. 2018; 46: W486-W494
- Decreased tryptophan metabolism in patients with autism spectrum disorders.Mol Autism. 2013; 4: 16
- X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.Eur J Hum Genet. 2003; 11: 937
- Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.Nat Commun. 2017; 8: 1257
- Accurate classification of BRCA1 variants with saturation genome editing.Nature. 2018; 562: 217-222
- A multiplex homology-directed DNA repair assay reveals the impact of more than 1,000 BRCA1missense substitution variants on protein function.Am J Hum Genet. 2018; 103: 498-508
- A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome.Genet Med. 2018; https://doi.org/10.1038/s41436-018-0372-2
- Variant Interpretation: Functional Assays to the Rescue.Am J Hum Genet. 2017; 101: 315-325
- High-resolution mapping of protein sequence-function relationships.Nat Methods. 2010; 7: 741-746
- Coevolution of PDZ domain-ligand interactions analyzed by high-throughput phage display and deep sequencing.MolBiosyst. 2010; 6: 1782-1790
- Experimental illumination of a fitness landscape.Proc Natl Acad Sci U S A. 2011; 108: 7896-7901
- Multiplexed assays of variant effects contribute to a growing genotype-phenotype atlas.Hum Genet. 2018; 137: 665-678
- Deciphering regulatory DNA sequences and noncoding genetic variants using neural network models of massively parallel reporter assays.PLoS One. 2019; 14: e0218073
- The current state of clinical interpretation of sequence variants.CurrOpin Genet Dev. 2017; 42: 33-39
- Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting <em>NF1</em>codons 844–848.Am J Hum Genet. 2018; 102: 69-87
RNA-based NF1testing on blood: Available at: https://www.uab.edu/medicine/genetics/medical-genomics-laboratory/testing-services/nf1-legius-syndrome-and-rasopathies/nf1-via-rna. Accessed July 22, 2019.
- Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk.Nat Genet. 2018; 50: 1171-1179
- Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets.Genome Res. 2019 Jul; 29: 1144-1151
- Predicting the clinical impact of human mutation with deep neural networks.Nat Genet. 2018; 50: 1161-1170
- Multi-omics factor analysis-a framework for unsupervised integration of multi-omics data sets.Mol Syst Biol. 2018; 14: e8124
- DIABLO: an integrative approach for identifying key molecular drivers from multi-omics assays.Bioinformatics. 2019; https://doi.org/10.1093/bioinformatics/bty1054
- High-throughput assays to assess the functional impact of genetic variants: a road towards genomic-driven medicine.ClinTranslSci. 2017; 10: 67-77
- Epigenomic and transcriptomic approaches in the post-genomic era: path to novel targets for diagnosis and therapy of the ischaemic heart? Position Paper of the European Society of Cardiology Working Group on Cellular Biology of the Heart.Cardiovasc Res. 2017; 113: 725-736
- Challenges and progress in interpretation of non-coding genetic variants associated with human disease.ExpBiol Med (Maywood). 2017; 242: 1325-1334
- Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.NPJ Genom Med. 2016; 1: 16001
Article info
Footnotes
This article originally appeared in Advances in Molecular Pathology, Volume 2, 2019.
Identification
Copyright
© 2020 Elsevier Inc. All rights reserved.
