The Diploid Genome Sequence of an Individual Human

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Items 301–400 of 1,000

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3. The population genomics of rhesus macaques ( Macaca mulatta ) based on whole-genome sequences
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6. The Evidence Dilemma In Genomic Medicine
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7. A standard variation file format for human genome sequences
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8. Technical desiderata for the integration of genomic data into Electronic Health Records
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9. CLEVER: clique-enumerating variant finder
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10. De novo sequencing of plant genomes using second-generation technologies
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11. State of the art de novo assembly of human genomes from massively parallel sequencing data
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12. The functional repertoires of metazoan genomes
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13. Personal receptor repertoires: olfaction as a model
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14. Strategic Approaches to Unraveling Genetic Causes of Cardiovascular Diseases
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15. mlRho – a program for estimating the population mutation and recombination rates from shotgun‐sequenced diploid genomes
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16. Microindel detection in short-read sequence data
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18. The current excitement about copy-number variation: how it relates to gene duplications and protein families
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19. Human Artificial Chromosomes that Bypass Centromeric DNA
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20. Genomic Characterization of Large Heterochromatic Gaps in the Human Genome Assembly
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21. Chromosomal Inversions between Human and Chimpanzee Lineages Caused by Retrotransposons
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23. A genome-wide survey of mutations in the Jurkat cell line
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24. Race Based Medicine, Colorblind Disease: How Racism in Medicine Harms Us All
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25. Copy number variants outperform SNPs to reveal genotype–temperature association in a marine species
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26. A Genomic Portrait of Human Microsatellite Variation
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27. Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults
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28. Cancer genome-sequencing study design
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29. Effects of short indels on protein structure and function in human genomes
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30. Rare and Common Regulatory Variation in Population-Scale Sequenced Human Genomes
    Stephen B. Montgomery, Tuuli Lappalainen, María Gutiérrez‐Arcelus, Emmanouil T. Dermitzakis · 2011 · PLoS Genetics
31. Integrated view of genome structure and sequence of a single DNA molecule in a nanofluidic device
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32. A procedure for highly specific, sensitive, and unbiased whole-genome amplification
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33. Genome-wide detection of copy number variations using high-density SNP genotyping platforms in Holsteins
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34. Identification and characterization of occult human-specific LINE-1 insertions using long-read sequencing technology
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35. Alu repeat discovery and characterization within human genomes
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36. Data structures and compression algorithms for genomic sequence data
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37. DNA replication acts as an error correction mechanism to maintain centromere identity by restricting CENP-A to centromeres
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38. Whole-genome sequencing of the efficient industrial fuel-ethanol fermentative Saccharomyces cerevisiae strain CAT-1
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39. Human DNA damage response and repair deficiency syndromes: linking genomic instability and cell cycle checkpoint proficiency
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40. Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models
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41. Completely phased genome sequencing through chromosome sorting
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42. A Next-Generation Sequencing Primer—How Does It Work and What Can It Do?
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43. The Role of Genome Sequencing in Neonatal Intensive Care Units
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44. Inversion variants in the human genome: role in disease and genome architecture
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45. The genome sequence of the spontaneously hypertensive rat: Analysis and functional significance
    Santosh S. Atanur, İnanç Birol, Victor Guryev, Martin Hirst, Oliver Hummel, Catherine Morrissey, Jacques V. Behmoaras, Xosé M. Fernández, Michelle D. Johnson, William M. McLaren et al. · 2010 · Genome Research
46. Next generation sequencing for molecular diagnosis of neuromuscular diseases
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47. GReEn: a tool for efficient compression of genome resequencing data
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48. Gut microbiota as an antioxidant system in centenarians associated with high antioxidant activities of gut-resident Lactobacillus
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49. Comparison of Sequencing Platforms for Single Nucleotide Variant Calls in a Human Sample
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50. SNPing cancer in the bud: MicroRNA and microRNA-target site polymorphisms as diagnostic and prognostic biomarkers in cancer
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51. Centromeric Satellite DNAs: Hidden Sequence Variation in the Human Population
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52. Sequences Associated with Centromere Competency in the Human Genome
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53. Detecting heterozygosity in shotgun genome assemblies: Lessons from obligately outcrossing nematodes
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54. Mobile element scanning (ME-Scan) by targeted high-throughput sequencing
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55. Adrenergic Signaling Polymorphisms and Their Impact on Cardiovascular Disease
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56. SeqWare Query Engine: storing and searching sequence data in the cloud
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57. A unique chromatin complex occupies young α-satellite arrays of human centromeres
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58. Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms
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59. An extended IUPAC nomenclature code for polymorphic nucleic acids
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60. Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment
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61. Global assessment of genomic variation in cattle by genome resequencing and high-throughput genotyping
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62. Using bioinformatics to predict the functional impact of SNVs
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63. New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)
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64. Error-prone polymerase activity causes multinucleotide mutations in humans
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65. Whole-genome haplotyping approaches and genomic medicine
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66. Contemplating effects of genomic structural variation
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67. Whole-genome sequencing and analysis of the Malaysian cynomolgus macaque (Macaca fascicularis) genome
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68. Haplotype assembly in polyploid genomes and identical by descent shared tracts
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69. AGE: defining breakpoints of genomic structural variants at single-nucleotide resolution, through optimal alignments with gap excision
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70. Fast construction of FM-index for long sequence reads
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71. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
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72. Data compression for sequencing data
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73. Clinical reviews in allergy and immunology
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74. Genetic determinants of cardiac hypertrophy
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75. Detection and correction of false segmental duplications caused by genome mis-assembly
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76. Exact algorithms for haplotype assembly from whole-genome sequence data
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77. Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA
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78. High‐resolution array genomic hybridization in prenatal diagnosis
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79. Read count approach for DNA copy number variants detection
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80. HERV-K(HML-2) rec and np9 transcripts not restricted to disease but present in many normal human tissues
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82. A comprehensively molecular haplotype-resolved genome of a European individual
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85. Whole-genome resequencing shows numerous genes with nonsynonymous SNPs in the Japanese native cattle Kuchinoshima-Ushi
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86. Extensive variation between inbred mouse strains due to endogenous L1 retrotransposition
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87. Radio Biometrics: Human Recognition Through a Wall
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88. Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations
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89. Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes Project
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90. DDBJ with new system and face
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92. Evaluating the Fidelity of De Novo Short Read Metagenomic Assembly Using Simulated Data
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93. Construction of Human Antibody Gene Libraries and Selection of Antibodies by Phage Display
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94. How next-generation sequencing is transforming complex disease genetics
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95. Completing the human genome: the progress and challenge of satellite DNA assembly
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97. Identification of genomic indels and structural variations using split reads
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98. Evolutionary and functional impact of common polymorphic inversions in the human genome
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99. Guarding the Genome: CENP-A-Chromatin in Health and Cancer
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100. Variation and Evolution of Human Centromeres: A Field Guide and Perspective
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