The Genom of Homo sapiens.pdf

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394 PORTEOUS ET AL.Valles V., Van Os J., Guillamat R., Gutierrez B., Campillo M.,Gento P., and Fananas L. 2000. Increased morbid risk forschizophrenia in families of in-patients with bipolar illness.Schizophr. Res. 42: 83.Vincent J.B., Herbrick J.A., Gurling H.M., Bolton P.F., RobertsW., and Scherer S.W. 2000. Identification of a novel gene onchromosome 7q31 that is interrupted by a translocation breakpointin an autistic individual. Am. J. Hum. Genet. 67: 510.Visscher P.M., Haley C.S., Heath S.C., Muir W.J., and BlackwoodD.H. 1999. Detecting QTLs for uni- and bipolar disorderusing a variance component method. Psychiatr. Genet. 9: 75.Wildenauer D.B., Schwab S.G., Maier W., and Detera-WadleighS.D. 1999. Do schizophrenia and affective disorder share susceptibilitygenes? Schizophr. Res. 39: 107.Williams N.M., Rees M.I., Holmans P., Norton N., Cardno A.G.,Jones L.A., Murphy K.C., Sanders R.D., McCarthy G., GrayM.Y., Fenton I., McGuffin P., and Owen M.J. 1999. A twostagegenome scan for schizophrenia susceptibility genes in196 affected sibling pairs. Hum. Mol. Genet. 9: 1729.WEB SITESwww.mentalhealth.org.ukhttp://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=104300http://genome.ucsc.edu/cgi-bin/hgGatewayhttp://www.ncbi.nlm.nih.gov/SNPhttp://snp.cshl.orgwww.wtcrf.med.ed.ac.uk
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ForewordIn 2001, as we considered t
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The Finished Genome Sequence of Hom
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4 ROGERSFigure 2. Accumulation of h
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6 ROGERSFigure 4. Sequencing center
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8 ROGERSabcFigure 5. Ensembl view o
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10 ROGERS2000. Analysis of vertebra
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The Human Genome: Genes, Pseudogene
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VARIATION ON CHROMOSOME 7 15rived f
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VARIATION ON CHROMOSOME 7 17DNAs an
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VARIATION ON CHROMOSOME 7 19expecte
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VARIATION ON CHROMOSOME 7 21Drosoph
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Mutational Profiling in the Human G
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HUMAN MUTATIONAL PROFILING 25Anothe
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HUMAN MUTATIONAL PROFILING 27Figure
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HUMAN MUTATIONAL PROFILING 29Rieder
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32 SCHMUTZ ET AL.algorithm itself,
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34 SCHMUTZ ET AL.Figure 2. Genomic
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36 SCHMUTZ ET AL.compared. Some of
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Human Subtelomeric DNAH. RIETHMAN,
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HUMAN SUBTELOMERIC SEQUENCES 41The
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HUMAN SUBTELOMERIC SEQUENCES 43cate
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HUMAN SUBTELOMERIC SEQUENCES 45Figu
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HUMAN SUBTELOMERIC SEQUENCES 47pres
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50 COLLINSand expand the genomics r
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52 COLLINSFigure 2. A public-sector
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54 COLLINSdefine all the parts of t
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56 BENTLEYmon over many generations
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58 BENTLEYTable 1. Genetic Disease
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60 BENTLEY(Clark et al. 1998; Reich
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62 BENTLEYACKNOWLEDGMENTSThe author
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SNP Genotyping and Molecular Haplot
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GENETIC ANALYSIS OF DNA POOLS 67gen
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70 FAN ET AL.matrix is then mated t
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72 FAN ET AL.Figure 3. Views of gen
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74 FAN ET AL.including 32 duplicate
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76 FAN ET AL.Figure 7. Allele-speci
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78 FAN ET AL.microsphere-based assa
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80 BERTRANPETIT ET AL.function, may
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82 BERTRANPETIT ET AL.diversity in
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84 BERTRANPETIT ET AL.gree of block
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86 BERTRANPETIT ET AL.Figure 1. Dec
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88 BERTRANPETIT ET AL.1999. Populat
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90 WINDEMUTH ET AL.Expression data.
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92 WINDEMUTH ET AL.Table 1. A Summa
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94 WINDEMUTH ET AL.Table 2. Signifi
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96 WINDEMUTH ET AL.Table 3. Summary
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98 WINDEMUTH ET AL.Table 6. List of
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100 WINDEMUTH ET AL.Table 6. (Conti
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102 WINDEMUTH ET AL.Table 6. (Conti
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104 WINDEMUTH ET AL.much of a surpr
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106 WINDEMUTH ET AL.Given our resul
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Genetic Variation and the Control o
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GENETIC CONTROL OF TRANSCRIPTION 11
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GENETIC CONTROL OF TRANSCRIPTION 11
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Genome-wide Detection and Analysis
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RECENT SEGMENTAL DUPLICATIONS 117Fi
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RECENT SEGMENTAL DUPLICATIONS 119St
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RECENT SEGMENTAL DUPLICATIONS 121Co
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RECENT SEGMENTAL DUPLICATIONS 123Ho
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The Effects of Evolutionary Distanc
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EVOLUTIONARY DISTANCE AND GENE PRED
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EVOLUTIONARY DISTANCE AND GENE PRED
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Lineage-specific Expansion of KRAB
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EVOLUTION OF ZNF GENES 133Figure 2.
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EVOLUTION OF ZNF GENES 135Figure 4.
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EVOLUTION OF ZNF GENES 137get gene,
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EVOLUTION OF ZNF GENES 139Y., Goodw
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Sequence Organization and Functiona
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CENTROMERE ANNOTATION 143THE CENTRO
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CENTROMERE ANNOTATION 145Figure 4.
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CENTROMERE ANNOTATION 147CONCLUSION
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CENTROMERE ANNOTATION 149Schueler M
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152 PARKHILL AND THOMSONFigure 1. T
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154 PARKHILL AND THOMSONshow very h
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156 PARKHILL AND THOMSONGene Loss a
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158 PARKHILL AND THOMSONYersinia ad
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160 MCKAY ET AL.Choosing Candidate
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162 MCKAY ET AL.new comparative too
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164 MCKAY ET AL.rich. Based on a th
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166 MCKAY ET AL.Embryonic Muscle an
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168 MCKAY ET AL.native polyadenylat
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Building Comparative Maps Using 1.5
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HUMAN CHROMOSOME 1p IN THE DOG 1731
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HUMAN CHROMOSOME 1p IN THE DOG 175(
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HUMAN CHROMOSOME 1p IN THE DOG 177l
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180 GEORGES AND ANDERSSON5. There i
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182 GEORGES AND ANDERSSONplied to r
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184 GEORGES AND ANDERSSONbe common
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186 GEORGES AND ANDERSSONin humans
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Evolving Methods for the Assembly o
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ASSEMBLING LARGE GENOMES 191Figure
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ASSEMBLING LARGE GENOMES 193tant ad
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Mouse Genome Encyclopedia ProjectY.
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MOUSE GENOME ENCYCLOPEDIA PROJECT 1
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DNA Sequence Assembly and Multiple
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EULERIAN ASSEMBLY AND MULTIPLE ALIG
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Ensembl: A Genome InfrastructureE.
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ENSEMBL 215projects often submit th
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218 ZHANGthe majority of these are
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220 ZHANGFigure 2. Demonstration of
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222 ZHANG(G.X. Chen et al., in prep
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224 ZHANGWe are waiting for experim
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Ontologies for Biologists: A Commun
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ONTOLOGIES FOR BIOLOGISTS 229al. 20
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ONTOLOGIES FOR BIOLOGISTS 231TOPIC
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ONTOLOGIES FOR BIOLOGISTS 233a.b.Fi
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ONTOLOGIES FOR BIOLOGISTS 2352003.
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238 JOSHI-TOPE ET AL.Figure 1. The
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240 JOSHI-TOPE ET AL.state of knowl
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242 JOSHI-TOPE ET AL.and co-immunop
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The Share of Human Genomic DNA unde
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DNA UNDER SELECTION FROM HUMAN-MOUS
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Detecting Highly Conserved Regions
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DETECTING MULTISPECIES CONSERVED SE
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266 ROE ET AL.noncoding regions. On
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268 ROE ET AL.a48 hpf embryos in Mi
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270 ROE ET AL.aNovel gene KIAA0819[
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272 ROE ET AL.aMouseRatAP00354.2 Hu
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274 ROE ET AL.Tautz D. and Pfeifle
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276 JAILLON ET AL.Detection of Evol
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278 JAILLON ET AL.Table 1. Distribu
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280 JAILLON ET AL.Table 3. Distribu
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282 JAILLON ET AL.ecotig is a resul
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284 OVCHARENKO AND LOOTSdivergent r
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286 OVCHARENKO AND LOOTSmodulation
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288 OVCHARENKO AND LOOTSsequencing
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290 OVCHARENKO AND LOOTSments of cl
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Evolution of Eukaryotic Gene Repert
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EVOLUTION OF EUKARYOTIC GENES AND I
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304 PENNACCHIO, BAROUKH, AND RUBINA
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306 PENNACCHIO, BAROUKH, AND RUBINh
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308 PENNACCHIO, BAROUKH, AND RUBINA
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High-Throughput Mouse Knockouts Pro
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314 FRIDDLE ET AL.screen to lines o
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Identification of Novel Functional
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100 bp ladder68G1168G1168H1168H6100
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FUNCTIONAL ELEMENTS IN HUMAN DNA 32
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High-resolution Human Genome Scanni
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HUMAN GENOME SCANNING 325false-posi
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HUMAN GENOME SCANNING 327affecting
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HUMAN GENOME SCANNING 329methods fo
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332 MALEK ET AL.Figure 1. The bacte
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334 MALEK ET AL.J., Vincent S., and
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336 HARDISON ET AL.reflect blocks o
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338 HARDISON ET AL.plain the region
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340 HARDISON ET AL.CALIBRATION OF T
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Page 351 and 352: 344 HARDISON ET AL.cific chromosoma
Page 353 and 354: 346 WESTON ET AL.these differences
Page 355 and 356: 348 WESTON ET AL.els controlled by
Page 357 and 358: 350 WESTON ET AL.ures prominently i
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Page 363 and 364: 356 WESTON ET AL.like fold (Fig. 6)
Page 366 and 367: Implications of Genomics for Public
Page 368 and 369: GENETIC EPIDEMIOLOGY 361lytic epide
Page 370 and 371: GENETIC EPIDEMIOLOGY 363curate risk
Page 372 and 373: A Model System for Identifying Gene
Page 374 and 375: PTC TASTE GENETICS 367Figure 2. Hap
Page 376 and 377: PTC TASTE GENETICS 369Table 2. Hapl
Page 378: PTC TASTE GENETICS 371the emergence
Page 381 and 382: 374 MCCALLION ET AL.Figure 1. Schem
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Page 385 and 386: 378 MCCALLION ET AL.Table 3. HSCR A
Page 387 and 388: 380 MCCALLION ET AL.Figure 3. Trans
Page 390 and 391: Genetics of Schizophrenia and Bipol
Page 392 and 393: SCHIZOPHRENIA AND BIPOLAR AFFECTIVE
Page 402 and 403: The Genetics of Common Diseases: 10
Page 404 and 405: GENETICS OF COMMON DISEASES 397with
Page 406 and 407: GENETICS OF COMMON DISEASES 399SELE
Page 408: GENETICS OF COMMON DISEASES 401F.,
Page 411 and 412: 404 CHEUNG ET AL.netic analysis. Ex
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Page 416 and 417: Regulation of α-Synuclein Expressi
Page 418 and 419: α-SYNUCLEIN EXPRESSION AND PD 411T
Page 420 and 421: 1. The levels of α-synuclein prote
Page 422: α-SYNUCLEIN EXPRESSION AND PD 415g
Page 425 and 426: 418 BOTSTEINFigure 1. (A) Blectron
Page 427 and 428: 420 BOTSTEINFigure 3. Cluster diagr
Page 429 and 430: 422 BOTSTEINFigure 6. Kaplan-Meier
Page 431 and 432: 424 BOTSTEINGarber M.E., Troyanskay
Page 433 and 434: 426 ANTONARAKIS ET AL.1316192225283
Page 435 and 436: 428 ANTONARAKIS ET AL.Figure 5. Sam
Page 437 and 438: 430 ANTONARAKIS ET AL.POPULATION VA
Page 439 and 440: 432 JORGENSEN ET AL.tive small mole
Page 441 and 442: 434 JORGENSEN ET AL.FLAG-tagged pro
Page 443 and 444: 436 JORGENSEN ET AL.visualization t
Page 445 and 446: 438 JORGENSEN ET AL.AArp2/3 Complex
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Page 449 and 450: 442 JORGENSEN ET AL.Giaever G., Chu
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Genomic Disorders: Genome Architect
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GENOME ARCHITECTURE AND GENOMIC DIS
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Human Versus Chimpanzee Chromosome-
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HUMAN VS. CHIMP CHROMOSOME COMPARIS
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HUMAN VS. CHIMP CHROMOSOME COMPARIS
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Novel Transcriptional Units and Unc
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TRANSCRIPTIONAL UNITS AND GENE PAIR
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mtDNA Variation, Climatic Adaptatio
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mtDNA VARIATION 473Figure 3. Region
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ANALYSIS OF ADAPTIVE SELECTION FORR
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mtDNA VARIATION 477Figure 8. Temper
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Positive Selection in the Human Gen
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HUMAN-SPECIFIC EVOLUTIONARY CHANGES
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488 UNDERHILLorigin episodes, each
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490 UNDERHILLhaplogroups C through
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492 UNDERHILLO (Fig. 2e) that share
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The New Quantitative BiologyM.V. OL
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NEW QUANTITATIVE BIOLOGY 497alone.
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NEW QUANTITATIVE BIOLOGY 499There w
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NEW QUANTITATIVE BIOLOGY 501ceded,
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