Home LiteratureArticle Details
PMID: 31269367 Published · ppublish English Journal Article Review

Genetic Variation, Comparative Genomics, and the Diagnosis of Disease.

The New England journal of medicine ·Vol. 381 ·No. 1 ·2019-00-04 ·Pages 64-74

Eichler EE

Abstract

暂无摘要

MeSH Terms
Disease/genetics Genetic Diseases, Inborn/diagnosis,genetics Genetic Linkage Genetic Predisposition to Disease/genetics Genetic Testing/methods Genetic Variation Genomics Humans Sequence Analysis, DNA/methods Telomere/genetics
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Eichler Evan E ORCID
From the Department of Genome Sciences, University of Washington School of Medicine, and the Howard Hughes Medical Institute, University of Washington, Seattle.
References (60)
60 references, click to expand
  1. Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype.
    Nat Genet. 1999 May;22(1):90-3 PMID: 10319869
  2. Initial sequencing and analysis of the human genome.
    Nature. 2001 Feb 15;409(6822):860-921 PMID: 11237011
  3. Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.
    Am J Hum Genet. 2002 Jan;70(1):83-100 PMID: 11731936
  4. Detection of large-scale variation in the human genome.
    Nat Genet. 2004 Sep;36(9):949-51 PMID: 15286789
  5. The molecular basis of variation in human color vision.
    Clin Genet. 2005 May;67(5):369-77 PMID: 15811001
  6. Segmental duplications and copy-number variation in the human genome.
    Am J Hum Genet. 2005 Jul;77(1):78-88 PMID: 15918152
  7. A high-resolution survey of deletion polymorphism in the human genome.
    Nat Genet. 2006 Jan;38(1):75-81 PMID: 16327808
  8. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
    Nat Genet. 2006 Sep;38(9):1038-42 PMID: 16906162
  9. Strong association of de novo copy number mutations with autism.
    Science. 2007 Apr 20;316(5823):445-9 PMID: 17363630
  10. Paired-end mapping reveals extensive structural variation in the human genome.
    Science. 2007 Oct 19;318(5849):420-6 PMID: 17901297
  11. Origins and functional impact of copy number variation in the human genome.
    Nature. 2010 Apr 1;464(7289):704-12 PMID: 19812545
  12. Finding the missing heritability of complex diseases.
    Nature. 2009 Oct 8;461(7265):747-53 PMID: 19812666
  13. Building the sequence map of the human pan-genome.
    Nat Biotechnol. 2010 Jan;28(1):57-63 PMID: 19997067
  14. Missing heritability and strategies for finding the underlying causes of complex disease.
    Nat Rev Genet. 2010 Jun;11(6):446-50 PMID: 20479774
  15. A unifying genetic model for facioscapulohumeral muscular dystrophy.
    Science. 2010 Sep 24;329(5999):1650-3 PMID: 20724583
  16. Diversity of human copy number variation and multicopy genes.
    Science. 2010 Oct 29;330(6004):641-6 PMID: 21030649
  17. Mapping copy number variation by population-scale genome sequencing.
    Nature. 2011 Feb 3;470(7332):59-65 PMID: 21293372
  18. A copy number variation morbidity map of developmental delay.
    Nat Genet. 2011 Aug 14;43(9):838-46 PMID: 21841781
  19. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
    Neuron. 2011 Oct 20;72(2):245-56 PMID: 21944778
  20. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
    Neuron. 2011 Oct 20;72(2):257-68 PMID: 21944779
  21. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
    Nature. 2012 Apr 04;485(7397):246-50 PMID: 22495309
  22. An integrated map of genetic variation from 1,092 human genomes.
    Nature. 2012 Nov 1;491(7422):56-65 PMID: 23128226
  23. Genic intolerance to functional variation and the interpretation of personal genomes.
    PLoS Genet. 2013;9(8):e1003709 PMID: 23990802
  24. A general framework for estimating the relative pathogenicity of human genetic variants.
    Nat Genet. 2014 Mar;46(3):310-5 PMID: 24487276
  25. A framework for the interpretation of de novo mutation in human disease.
    Nat Genet. 2014 Sep;46(9):944-50 PMID: 25086666
  26. Resolving the complexity of the human genome using single-molecule sequencing.
    Nature. 2015 Jan 29;517(7536):608-11 PMID: 25383537
  27. Building a pan-genome reference for a population.
    J Comput Biol. 2015 May;22(5):387-401 PMID: 25565268
  28. Large multiallelic copy number variations in humans.
    Nat Genet. 2015 Mar;47(3):296-303 PMID: 25621458
  29. Assembly and diploid architecture of an individual human genome via single-molecule technologies.
    Nat Methods. 2015 Aug;12(8):780-6 PMID: 26121404
  30. Global diversity, population stratification, and selection of human copy-number variation.
    Science. 2015 Sep 11;349(6253):aab3761 PMID: 26249230
  31. A global reference for human genetic variation.
    Nature. 2015 Oct 1;526(7571):68-74 PMID: 26432245
  32. An integrated map of structural variation in 2,504 human genomes.
    Nature. 2015 Oct 1;526(7571):75-81 PMID: 26432246
  33. Genetic variation and the de novo assembly of human genomes.
    Nat Rev Genet. 2015 Nov;16(11):627-40 PMID: 26442640
  34. Schizophrenia risk from complex variation of complement component 4.
    Nature. 2016 Feb 11;530(7589):177-83 PMID: 26814963
  35. Long-read sequence assembly of the gorilla genome.
    Science. 2016 Apr 1;352(6281):aae0344 PMID: 27034376
  36. Long-read sequencing and de novo assembly of a Chinese genome.
    Nat Commun. 2016 Jun 30;7:12065 PMID: 27356984
  37. Analysis of protein-coding genetic variation in 60,706 humans.
    Nature. 2016 Aug 17;536(7616):285-91 PMID: 27535533
  38. De novo assembly and phasing of a Korean human genome.
    Nature. 2016 Oct 13;538(7624):243-247 PMID: 27706134
  39. Discovery and genotyping of structural variation from long-read haploid genome sequence data.
    Genome Res. 2017 May;27(5):677-685 PMID: 27895111
  40. Single-molecule sequencing and chromatin conformation capture enable de novo reference assembly of the domestic goat genome.
    Nat Genet. 2017 Apr;49(4):643-650 PMID: 28263316
  41. The impact of structural variation on human gene expression.
    Nat Genet. 2017 May;49(5):692-699 PMID: 28369037
  42. Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly.
    Genome Res. 2017 May;27(5):849-864 PMID: 28396521
  43. Genomic Patterns of De Novo Mutation in Simplex Autism.
    Cell. 2017 Oct 19;171(3):710-722.e12 PMID: 28965761
  44. Gene Discovery for Complex Traits: Lessons from Africa.
    Cell. 2017 Oct 5;171(2):261-264 PMID: 28985555
  45. Nanopore sequencing and assembly of a human genome with ultra-long reads.
    Nat Biotechnol. 2018 Apr;36(4):338-345 PMID: 29431738
  46. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.
    Cell. 2018 Feb 22;172(5):897-909.e21 PMID: 29474918
  47. Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
    Nat Genet. 2018 Apr;50(4):581-590 PMID: 29507423
  48. Linear assembly of a human centromere on the Y chromosome.
    Nat Biotechnol. 2018 Apr;36(4):321-323 PMID: 29553574
  49. High-resolution comparative analysis of great ape genomes.
    Science. 2018 Jun 8;360(6393): PMID: 29880660
  50. Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia.
    Am J Hum Genet. 2018 Sep 6;103(3):421-430 PMID: 30100087
  51. Variation graph toolkit improves read mapping by representing genetic variation in the reference.
    Nat Biotechnol. 2018 Oct;36(9):875-879 PMID: 30125266
  52. Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.
    Nat Commun. 2018 Aug 23;9(1):3391 PMID: 30140000
  53. De novo assembly of haplotype-resolved genomes with trio binning.
    Nat Biotechnol. 2018 Oct 22;: PMID: 30346939
  54. Assembly of a pan-genome from deep sequencing of 910 humans of African descent.
    Nat Genet. 2019 Jan;51(1):30-35 PMID: 30455414
  55. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
    Am J Hum Genet. 2019 Jan 3;104(1):35-44 PMID: 30554721
  56. Long-read sequence and assembly of segmental duplications.
    Nat Methods. 2019 Jan;16(1):88-94 PMID: 30559433
  57. Characterizing the Major Structural Variant Alleles of the Human Genome.
    Cell. 2019 Jan 24;176(3):663-675.e19 PMID: 30661756
  58. Multi-platform discovery of haplotype-resolved structural variation in human genomes.
    Nat Commun. 2019 Apr 16;10(1):1784 PMID: 30992455
  59. Numbers and ratios of visual pigment genes for normal red-green color vision.
    Science. 1995 Feb 17;267(5200):1013-6 PMID: 7863325
  60. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.
    Trends Genet. 1998 Oct;14(10):417-22 PMID: 9820031
Article Info
Journal
The New England journal of medicine
Abbr.
N Engl J Med
ISSN
1533-4406
Published
2019-00-04
Pages
64-74
Language
English
Region
United States
NLM ID
0255562
PMCID
PMC6681822
Grants
Howard Hughes Medical Institute · United States
NHGRI NIH HHS · R01 HG010169 · United States
NICHD NIH HHS · U54 HD083091 · United States
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]