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Published by soedito, 2017-07-29 21:58:16

BIOINFORMATICS_for_GENETICISTS_203_411

BIOINFORMATICS_for_GENETICISTS_203_411

398 INDEX

haplotypes (continued) number of genes 273–4, 374
marker sets 171 other vertebrate comparisons 74
patterns 198 QC 154
reconstruction 226–9 sequence
statistical analysis 170, 173
characterization 173
HAPPY program 237 physical maps 153–4
Hardy–Weinberg equilibrium 175, 226 sequencing 373
header records 32 web-based tools 168
Helicobacter pylori websites 112–13
Human Genome Browser (HGB) see UCSC
gene fusion events 360 human genome browser
inference of protein interactions 365 Human Genome Variation database see
interaction network 355 HGVbase
heterogenous stocks 17 Human Proteomics Initiative (HPI), SwissProt
HEXB gene 265 sequences 73
HGMD database 46, 57–8 Human Transcriptome Map (HTM) 320–1,
HGVbase 36, 56–7 336–7, 338, 339, 340–1
short insertion/deletion polymorphisms 49 annotation 337, 339
SRS database 58 construction 334–6
high-performance liquid chromatography relational database 334–6
RIDGES 340
(HPLC) 350 tags
High Throughput Genomic Sequences (HTGS) antisense 337, 339
unreliable 337
80 – 1 human variation 375
HighWire 29–30 Huntingtin 9
histidine 298, 299, 302–3 Huntington’s disease 9, 47
HIV-1 infection 280 hypermutability 42
HMMER program 102, 296 hypothesis construction 22
Homo sapiens CAGH44 mRNA 102
homology support 74 Improbizer tool 266
HTRA3 80, 81 indexing of data 23
HTRA4 80, 81 Induced Mutant Resource, mouse 133–4
htSNP program 171 Information Retrieval 365–6
Human Gene Mutation Database see HGMD insertion/deletion (INDEL) polymorphisms

database 40, 48–9
human genetic variation 40–2 dbSNP database 52
insulin gene, diabetes type 1 176
databases 50, 51 Interacting Domain Profile Pair (IDPP)
forms 43–50
mechanisms 43–50 362–3, 364
quantity 41 interactome 351
human genome 3 Internal Ribosome Entry Site (IRES) 262
annotation 98–109, 110, 111, 112, 113–14 International Human Genome Sequencing
browsers 7, 12, 52
completion 98–9 Consortium (IHGSC) 96–8
International Protein Index (IPI) 73
of sequencing 144
data analysis 88
ORFs 75
interrogation 71–2 internet 4, 6
overload 374–5 biological data sub-division 23
draft sequence 95 heart 30
genetic data integration 7 resources 22–37
genetic maps 154 search methods 22
high-throughput technologies 103 see also search engines
locus 168 InterPro database 102, 367
mapping 375
marker localization 184
misassembly rate 98

INDEX 399

InterProScan 31 Linux 22
intronic sequence literature

identification 266 digests 30
removal 279 mining 365–6
intronic splicing enhancers (ISE) 256, 258, search 6, 14, 28–9

259, 260 full-text journals 29–30
intronic splicing silencers (ISS) 256, 258, locus

259, 260 characterization of genetic/physical
introns 276 199 – 201

variants 252 defining 180–4
inverse genetics 265, 266 genetic characterization 182
inverted repeat detection 265 genome sequence extraction 184–5
isochore boundary identification 200–1 human genome 168
isoleucine 298, 300 known/novel genes 189
refinement 173–6
Jackson Lab Radiation Hybrid Map 124, 125 sequence characterization 167–8
Jagged 1 267 locus-specific databases 57
journals, full-text 29–30 LocusLink 52, 64
LocusLink/RefSeq (LLRS) 34–5, 36
KEGG graphical biochemical pathway maps LOD (log of the odds) score 10
325 GDB database 61
linkage measurement 218
keyword retrieval technique 364–5 locus definition 182
knowledge management 6 maps 154, 156
Kozak sequence 261–2, 264 quantitative trait locus mapping 236
KWOK 54 quantitative trait NPL analysis 222
Kyoto Encyclopedia of Genes and Genomes 14 LOKI program 220
long interspersed elements (LINEs) 275
laboratory information management systems lysine 299, 304–5
(LIMS) 7 lysosomes 293

lactate dehydrogenase 312, 313 malate dehydrogenase 312, 313
least squares regression 236 MALDI/TOF peptide mass fingerprinting 349
leucine 298, 300–1 Malecot isolation 231
likelihood methods 231 Mammalian Gene Collection 130–1, 324
likelihood ratio 219–20 Map Manager QTX program 237–9, 240
linkage analysis 9–10, 165–76, 218–23 MapMaker 145
MAPMAKER/EXP program 236
non-parametric 219–20, 222–3 MAPMAKER/QTL program 236, 237
parametric 218–19 MAPMAKER/SIBS program 219–23, 224,
recombination 9
study population 166–7 236
linkage disequilibrium 10, 11, 12, 41–2, mapping, simple interval 236
MapQTL program 237
168–9, 229–35 maps
absolute 169
definition 229 construction of marker 197–8
genetic nature of region 180 cytogenetic 148–9
genotypes with unknown phase 233–4 genome 145
haplotype analysis 235 haplotype 148, 172
human variation 375 integration 155, 156, 158
maps 148, 199–200, 375 linkage disequilibrium 148, 197, 199–200,
marker maps 197
measures 168 375
recombination frequency 200 master 156
two polymorphisms 168–9 see also genetic maps; physical maps;
linkage maps 145–8, 146–8
genome-wide 145–6 radiation hybrid maps
LINKAGE program 221, 225

400 INDEX

MapViewer 146, 154 data 14
genome viewer 157–8 tracks 193–5
radiation hybrid maps 151
expression 15
MARFinder 275 technology costs 194
markers microsatellites 7, 40, 47
data 197
density 9, 11, 42 databases 60–1
single nucleotide polymorphisms 147 genome map 145
identifying in sequence data 196–7
disease association 175 mouse 133
genomic sequence polymorphic sequences 279
Sequence Tagged Sites 60
identification/extraction 184–5 see also single tandem repeat (STR) markers
integrity checking 185–8 minisatellites 41, 47
identification of known and novel 195–9 MIPS database 358, 365, 366–7
localization to human genome 184 Mitelman Map of Chromosome Aberrations in
map
construction 197–8 Cancer 50, 62–3, 325
order 188 mitochondria 292–3
mapping to human genome 182 MITOMAP database 61–2
multi-allelic 225 Molecular Biology Database Collection 33
order resolution 154–5, 159 Molecular Modelling Database of 3D
panel design 199–201
sequence 184 structures (MMDB) 31
sets 171 Moment Method 231
statistical analysis 173, 175 monogenic disorders see Mendelian disorders
Markov Chain method 220, 235, 236 monogenic traits
Marshfield genetic linkage map 146, 147
Marshfield website 49 linkage analysis 172–3
MaskerAid 207, 209 mapping 16
mass spectrometry 349–50 Monte Carlo simulation test 174, 220, 236
MatInspector program 284 SAGE tags 331, 333
Matrix-Assisted Laser Desorption/Ionisation motif recognition 86–7
(MALDI)/Time-of-Flight (TOF)-based mouse
peptide mass fingerprinting 349 bioinformatics 120–1
Matrix/Scaffold Attachment Regions (S/MARs)
275 data integration 121–2
maximum likelihood estimate (MLE), BLAT 74
expectation–maximization (EM) 170 cDNA clone resources 130–1
maximum likelihood methods 231 chemical mutagenesis 133
mDNA 207 chromosome sequencing 129
MEDLINE 25, 28 concensus linkage map 124
record analysis 366 disease models 137
MEGABLAST 84 DNA mapping panels 124
Mendelian disorders 8, 9 functional genomics 135–7
genes 10 gene targeting 133
mutations affecting mRNA splicing 259 genetic maps 124–5
regulatory regions 257 genetic variants 133
MERLIN program 220, 225, 226 genome 15, 16–17, 106
metabolic pathways 356, 357, 358
MetaCrawler 25 assembly 74
metasearch engines 25 manipulation techniques 133
methionine 298, 301 sequence 126, 127
MFOLD program 263 genome sequencing
MHC locus 128 comparative genomics 131–2
microarrays 15 completion 144
initiative 128–9
resources 129–30
systematic genome-wide approaches 132

INDEX 401

Induced Mutant Resource 133–4 multigenic disease see complex disease
microsatellites 133 Multimapper program 236
model organism databases 122–4 Multiple QTL Mapping (MQM) 236
monogenic trait mapping 16 mutagenesis, site-directed 312
phenotypic variants 134 Mutant Mouse Regional Resource Centres
physical maps 125–7
radiation hybrid maps 124–5 134
single nucleotide polymorphisms 133 mutations 8, 40, 41, 291–2
strains
AAUAAA polyadenylation signal 260
characterization resources 134 Alagille syndrome 267
nomenclature standards 122 amino acids 311–13
transgenic 133 correlated 367
whole genome shotgun data 128 databases 46, 57–8, 59, 60
Mouse Atlas and Gene Expression Database
Project 103 non-nuclear/somatic 61–3
Mouse Genome Database 103, 122, 123, 124 disease 250
DNA mapping panels 124 haemoglobin 291
maps of curated orthologues 131 human data 7
Mouse Genome Informatics (MGI) 123 key in amino acid evolution 312–13
Mouse Genome Resources, NCBI 130 loss 44–5
Mouse Genome Sequencing Project (MGS) mapping 4
123 matrices 296, 297
Mouse Phenome Database (MPD) 134 Mendelian 44
Mouse Tumor Biology Database (MTB) 123 multiple founder 231
MouseBLAST 129–30 natural history 44–6
mRNA non-nuclear 61–3
3’ UTR 75, 79, 261 phenotypic 204
regulatory elements 263 point 50, 311
RNA instability signals 279 potentially deleterious 269
5’ UTR 75, 79, 261 single nucleotide polymorphism relationship
IRES 262
regulatory elements 263 43 – 6
RNA instability signals 279 somatic 50
accession numbers 77–8
analysis tools/databases 263–4 databases 61–3
correctly spliced transcript 189–90 survival 274
extended 72–3, 84 tools for visualization 63–6
folding 263 MYCN oncogene 321
Homo sapiens CAGH44 102 myotonic dystrophy 47
human 72–3
LocusLink/RefSeq (LLRS) 34–5 National Centre for Biotechnology Information
mature 258 see NCBI
mutations affecting splicing 259
regulatory 264 NC160 Cell Line Project 192, 193–5
regulatory control of processing/translation NCBI Acembly tool 106, 108
NCBI browser 173
263 NCBI database 60
regulatory elements 264
secondary structure stability 262–3 genome viewer 79–80
splice variants 190 Human BAC resource page 152
transcripts 75 human genome sequencing 97–8
Mouse Genome Resources 130
polymorphisms 260–1 novel gene analysis 81, 82–3, 88
UTRs 252 radiation map 186
virtual 72, 84, 85, 86 see also LocusLink
mtDNA 61, 62 NCBI MapViewer tool 50, 60, 63, 107–8
characterization of genetic/physical locus

199 – 201
duplication detection in genomic assemblies

186, 187

402 INDEX

NCBI MapViewer tool (continued) similarity 137
FOXP2 gene genomic region 108, 109 single nucleotide polymorphism effects 311
identification of known and novel markers variance 220
195 – 9 phenotype–genotype correlation 8, 24
marker localization to human genome 184 phenylalanine 298, 301–2
marker mapping to human genome 182 phosphorylation 295
marker panel design 199–201 Phusion 129
pros and cons 183 physical distance 154
physical locus analysis 12, 13
NCBI RefSeq, human transcripts 73 physical maps 144, 148–51
neighbourhood quality standard (NQS) 205 accuracy 154
neurological disorders, mouse models 135 bacterial artificial chromosome 151–2
neutral theory of evolution 41 contig 151–2
NF1 gene 201 cytogenetic 148–9
NOD2 gene 9 draft sequence curation 152–3
FISH 149
Crohn’s disease 166, 172 human 148–51
Notch receptor family 267 human genome sequence 153–4
nuclear matrix 275 integration 155, 156, 158
nucleic acid sequences, secondary database mouse 125–7
radiation hybrid 149–51
34 – 5 rat 128
Nucleic Acids Research 33 UDB database 159
nucleosomes 275 value 154
nucleotide sequences yeast artificial chromosome 151–2
PIMRider program 355, 356
analysis of novel regulatory elements and PIPMAKER 131
motifs 264–6 PIScout program 356
PLABQTL program 236
databases 30–1 PMPLUS program 226, 227, 229
Point Accepted Mutation (PAM) matrices 296
Oak Ridge National Laboratory (ORNL) polyA signal 326, 328
Genome Channel 108–9, 110, 111 polyA sites 108, 109
polyA tail 326, 328, 337
On-line Mendelian Inheritance in Man (OMIM) polyacrylamide gel electrophoresis (PAGE)
6, 14, 30, 58, 60
348 – 9
chromosome aberrations 49 polyadenylation signals 260
insertion/deletion polymorphisms 49 POLYBAYES 205–6, 207
literature search 31 polymerase chain reaction (PCR)
LocusLink 35
MITOMAP linkage 62 allele-specific 170
predicted protein–protein links 365 assay design for SNPs 204, 208–10
Open Reading Frame EST sequencing 324 DNA amplification 209
open reading frames (ORFs) 72, 73, 256, 258 electronic 43, 153, 187
identification 261 primer design 207–8
International Protein Index 75 primers 211
novel protein 84, 85
yeast two-hybrid system 351 annealing temperature 207–8, 211
ORESTES 324 polymerase II promoters 277, 278
organelles 292–3 polymorphic markers 145
ovarian cancer 9 polymorphic microsatellite sequences 279
polymorphisms 41, 176
palindromic motif detection 265
pentanucleotide sequences 263 amino acids 266–7, 268
peptide mass fingerprinting 349 approximate localization 253
PFAM 36 AU-rich motif disruption in 3’ UTR
phage display 354
phenotype sequence 263

evolutionary selection 311
genetic interactions 103
mouse variants 134

candidate 251–2 INDEX 403
computational discovery 205
DNA 252 cytosolic 292
functional in genes/gene regulatory databases 36, 73
docking propositions 367
sequences 254–5 domain–domain interactions 367
identification of potentially functional 195, duplication 293
environments 292–3
196 evolution 293–4
mapping 4 expression data analysis 350–1
mRNA transcript 260–1 expression networks 350
multiple 9 extracellular 292
non-synonymous coding 266–8
predictive functional analysis 250–69 amino acid substitution matrices 381
function 294
decision-making 252, 253, 256–7, 266 functional analysis 58
gene promoter characterization 257 gene fusion events 359, 360
novel regulatory element/motif analysis gene neighbourhood 359–61
gene regulation networks 358–9
264 – 6 guilt-by-association rule 366–7, 368
putative splicing elements 259–60 homologues 101, 293, 294
regulatory region characterization 257 ID numbers 32
regulatory regions 266 Interacting Domain Profile Pair (IDPP)
in silico predictions 268–9
splice region 259 362–3, 364
see also single nucleotide polymorphisms interaction inferences 362–3
interaction networks 351–4
(SNP)
Polyphred 205, 206, 207 analysis 355–6
population stratification 166–7, 175 automated validation 364–5
PPARγ , diabetes association 14 building 354
Primer3 208, 209, 210, 211 cell pathways 356, 357, 358–9
centrality 368
pooled sequencing 211 combined methods 361–2
Probe-Set data 31 comparative genomics 359
proline 298, 299, 309–11 exploitation 366–7
promoter(s) 278, 281, 282, 283 false-negative/-positive interactions

modules 278 354–5, 368
prediction tools 26–7 inference mechanism across organisms
TF-sites 277–8
promoter region anatomy 257 362
promoter sequences 282–3 lethality 368
analysis 265 literature mining 365–6
deletions/insertions 278 manual validation 365
PromoterInspector program 283 prediction 359–63
PROSITE 36 prediction assessment/validation 363–6
protein(s) prediction rule deduction 367–8
amino acids 266, 267 shape analysis 367–8
intracellular 382
behaviour 292–6 matches 88
structural 294 membrane 383
substitution matrices 379, 380–3 metabolic pathways 356, 357, 358
annotation 268 microarrays 354
auto-activator bait 354–5 orthologues 101, 102, 293, 294
cellular location 266, 292–3 pairs 101
Clusters of Orthologous Groups (COGs) paralogues 101, 102, 293, 294
phylogenetic profiles 361
101 post-translational modification 294–6
complexes prey 355
prey gene sequencing 354
co-localization 15
purification 348
correlated mutations 367

404 INDEX

protein(s) (continued) radiation hybrid code (RH-code) 334
regulation 347 Radiation Hybrid Database (RHdb) 125
sequence information 346 radiation hybrid maps
signal transduction networks 358
speciation 293 duplication detection in genomic assemblies
structure 293 186 – 7
websites 36
yeast two-hybrid system 351–2, 353 human 149–51, 154
Human Transcriptome Map 336
protein-binding sites 276 mouse 124–5
protein kinase 294 rat 128
Protein Mutation Database (PMD) 58 resolution 188
protein sequence databases, internet searching RANTES gene 280
rat
30 – 1 bioinformatics 120–2
protein–protein interactions 15, 351–2, 353, disease models 137
functional genomics 135–7
354, 356 genes 123
domain–domain interactions 367 genetic maps 127–8
predicted links 365 genome 15, 16–17
proteome genome sequencing
cell pathways 356, 357, 358–9
false-negative/-positive interactions 354–5 comparative genomics 131–2
identification 349–50 initiative 131
interactions 351 systematic genome-wide approaches 132
purification 348 genomic resources 127
separation 348–9 model organism databases 122–4
see also protein(s), interaction networks monogenic trait mapping 16
proteome-wide characterization 350 physical maps 128
proteomic informatics 347 radiation hybrid maps 128
proteomics strains 121, 122
classical 347–51 Rat Genome Database 122, 123–4
definition 346 RatMap 123, 127, 128, 131
see also protein(s), interaction networks; RealSNP 208
recombinant inbred line 236
proteome recombination 180
pseudogenes 264 events 145
PSI-BLAST program 296 reduced representation shotgun (RRS)
PubMed 23, 24, 28–9 sequencing 54
reference sequence (RefSeq) 34, 35
full-text journals 30 Reference SNPs (RefSNPs) 52
GenBank accession numbers 35 regions of increased gene expression see
literature search 31 RIDGES
pufferfish genome 106 regulatory elements 257, 276
Purkinje cell protein 4 193, 194 bioinformatic characterization 15
pyruvate metabolic pathway 356, 357, 358 identification 283–4
regulatory regions 276
QTDT program 223 relational database management system
QTL Cartographer 236, 237 (RDBMS) 335, 336
quantitative trait loci 17 repeat sequences 108, 109
RepeatMasker 205, 207, 209, 211
multiple 236 restriction fragment length polymorphisms
rat 123, 124 (RFLPs) 11
rodents 137 RIDGES 321, 338, 339–40, 341
quantitative trait locus mapping 236–9 statistical evaluation 340
heterogeneous stocks 237 RIKEN Exploration Research Group 130
simple interval mapping 236, 239–40 RING-finger 86–7
quantitative traits 220, 221
non-parametric linkage analysis 222–3
quotation mark use 26

INDEX 405

risk allele 167 search engines 23, 24–6
RNA domain restriction 26–7
filtering results 26
instability signals 279 quotation mark use 26
non-coding 101, 264 search syntax 26–7
processing 279
regulatory 374 sequence data 30–1
see also mRNA biological sequence databases 31–6
RNA-binding proteins 263
Rosetta-stone method 359 Sequence Retrieval Server (SRS) 30, 31, 32,
RPCI BAC libraries 126–7 58
RS number 35, 36
RT-PCR data 14 sequence tagged sites (STS) 60, 145
genetic maps 152–3
Saccharomyces cerevisiae 15 markers 151
proteome 103 physical maps 152–3
rat 124
Saccharomyces Genome Database 103 see also dbSTS
SAGE 14, 192, 219, 220, 320, 323
sequence variation database 58
analysis 321 Sequencher 205, 206–7
computational resources 333–4 Serial Analysis of Gene Expression see SAGE
serine 299, 307
concatemer sequences 322, 325 serine/arginine-rich (SR) protein family 258
critical values 331, 332 serine proteases 80, 81
data processing 325–34 short insertion/deletion polymorphisms (SIDPs)
DNA microarray technology comparison
49
323 short interspersed elements (SINEs) 275
expression profiles 192, 321 short tandem repeats see microsatellites
Human Transcriptome Map 336, 337, sib transmission disequilibrium (S-TDT) 167,

340 – 1 225
libraries 323, 324, 325, 330–1 SIBPAIR program 219
sickle cell disease 291
Human Transcriptome Map construction signal transduction networks 358
334, 335 silencers 275
simple interval mapping 236, 239–40
RIDGES 339 SimWalk2 223, 225, 226
statistical tests 331–3 single base extension (SBE) reactions 211
principles 322 single gene disorders see Mendelian disorders
statistical analysis resources 330 single marker association 239–40
tag-to-gene mapping 325–6, 327, 330, 333 single nucleotide polymorphisms (SNP) 8, 11,
tags 322, 325–30, 331–3
anti-sense 330 35, 168
Human Transcriptome Map construction allelic discrimination methods 208
amino acids 311–12
334, 337 annotation 195
sense 330 assay methods 208–9
sequence errors 334 assay validation 212–13
Z-test 333, 334 BACE gene 77
SAGE300 331, 333 base-wise multiple alignment 205
SAGEmap biallelic 168
tag-to-gene mapping 327, 328, 333, 334 candidate 55–6, 57, 66, 197
Virtual Northern tool 325
SAHA nucleotide searches 76 identification 198–9
salt bridges 304, 305 CATG sequence 329, 330
SANGER 54 common 41
SCA10 gene 47 consortium 12
schizophrenia 10
Schizosaccharomyces pombe 15
Scirus 23, 25–6, 27
point mutations 50
SDS-PAGE 348, 349

406 INDEX

single nucleotide polymorphisms (SNP) mouse 133
(continued ) mRNA secondary structure 263
mutation
cystic fibrosis new binding site creation 280
data 7, 54–5 events 40
relationship 43–6
integration 43 natural history 44–6
databases 51–7 non-coding 273–85
evaluation 280
mouse 133 non-synonymous (nsSNP) 250, 311
density 250 nucleotide difference scanning 205
design 211, 212 phenotypic effects 311
physical maps 325
parameters 209–10 pooled sequencing 211, 212
detection potential effects 274–5, 276, 279
primer
algorithm 205 design 209–10
methods 205–7, 208 selection 210–11, 212
discovery 175, 204 private 55, 56
de novo 205 reaction formats 208
global 204 reference 52
method 55 regulatory 277–8, 279–80
non-sequencing methods 207 functional consequence estimation 284–5
targeted 204 in silico detection/evaluation 281–2
disease regulatory analysis 277, 281–2
gene mapping 100 regulatory DNA 276
susceptibility 204 regulatory networks 281
disease-causing 311–12 regulatory regions 279–80, 280
effects in promoters 278 relationship evolution 169
exonic region 250 repeat masking 209, 211
experimental parameters 209–10 score 205
exporting 197, 199 sequence trace data 206
flanking sequences 209 single base extension reactions 211
gene coding sequence 280 statistical analysis 175
gene expression 281 structural elements 276–7
genetic maps 325 TF binding site influence 279–80, 282
genome map 145 tools for visualization 63–6
genome-wide 207 TSC linkage map 147–8
genome-wide linkage map 145–6 validation 285
genomic 204 variation 43–6
overlap 54–5 see also dbSNP
genotyping 175 single tandem repeat (STR) markers 9, 11, 12,
guide sequence 213 172 – 3
haplotype allele frequency distribution 172–3, 174
and linkage dysequilibrium maps 148 analysis 173–5
patterns 198 genotyping 174
tags 197 identifying in sequence data 196–7
human variation 375 multiallelic 168
identification 205 mutation rate 172, 173
for marker set selection 171, 172 polymorphic 9
of potentially functional 195, 196 polymorphism testing 174
intragenic region 250 see also microsatellites
intronic region 250 slipped-strand mispairing 48
large-scale discovery 42 small nuclear ribonucleoprotein (snRNP)
location 276, 279, 280 complexes 258
map locations 212–13
mapping to promoter region 283
marker density 147
missense 311–12

INDEX 407

SMARTest 275 TNG radiation hybrid map 98, 149
The SNP Consortium (TSC) Allele Frequency Trans-NIH BAC Sequencing Program 129
transcription control 277–8
Project 208 transcription factor binding sites (TF-sites)
SNPHAP program 226
SNPper 52, 64–5, 199, 208 276, 277–8, 282
single nucleotide polymorphism influence
flanking sequences 209
identification of known and novel markers 279 – 80
synergistic/antagonistic pairs 278
195 – 9 transcription factors 265
SOLAR program 220 transcription start sites 111, 257, 266, 282
solenoids 275 transcriptional control regions, in silico
SPAD database 358
spinocerebellar ataxia 10 (SCA10) 47 recognition 74
splice acceptor/donor sites 259 transcriptome translation products 346
splice signals 279 TRANSFAC database 264, 265, 358
splice site prediction transgenic animals 15
translation initiation 261–2
location 259 transmission disequilibrium test (TDT) 167,
tools 259–60
spliceosome 258 173, 225
splicing 279 TRANSMIT program 227
SPLINK program 220 Transterm database 264
SQL (Structured Query Language) 335–6 TrEMBL 36
SSAHA 99 TRES tool 265–6
statistical analysis tools 218–40 triplet repeat expansion diseases 47
association analysis 223–5 trypsin 294
haplotype reconstruction 226–9 tryptophan 298, 302
quantitative trait locus mapping 236–9 TSC map 146, 147–8
single marker association 239–40 tumour classification 15
see also linkage analysis; linkage Twinscan program 111
tyrosine 298, 299, 302
disequilibrium tyrosine kinase receptor signal transduction
STRAT program 167
structural elements 276–7 network 358
STRUCTURE program 167
Swiss-3Image 36 UCSC human genome browser 63
SWISS-PROT keyword overlap 364 candidate gene selection 190–5
SwissProt/TrEMBL (SPTR) 36, 73 characterization of genetic/physical locus
synteny groups 360–1 199 – 201
chromosome aberrations 49–50
Tag n Tell 57, 198 definition of known/novel genes across
tandem affinity purification (TAP) 348 genomic region 188–90
Tandem Mass Spectrometry 349 duplication detection in genomic assemblies
Tandem Repeat Finder 196–7 186
tandem repeat polymorphisms 46–8 genome viewer 157
genomic sequence
see also variable number of tandem repeats annotation 106–7
(VNTR) assembly 98
identification/extraction between two
TaqmanTM assays 208 markers 184–5
TBLASTN expressed sequence tags 84, 86 integrity checking between markers 185
TDTHAP program 226 Genscan prediction 82
Tetraodon nigroviridis (pufferfish) 15, 106 GNF gene expression atlas ratios 193, 194
TG deletion 265 human genome misassembly rate 98
The SNP Consortium (TSC) Allele Frequency identification of known and novel markers
195 – 9
Project 208 maps 155
threonine 299, 307–8 marker mapping to human genome 182
TIGR human gene index 35, 73, 84

EST assemblies 88

408 INDEX

UCSC human genome browser (continued) untranslated regions (UTRs) 75, 79, 252,
marker panel design 199–201 256–7, 261
microarray data tracks 193, 194
mouse whole genome shotgun data 129 RNA instability signals 279
novel gene analysis 81–4, 86, 88 sequence identification 266
promoter analysis 257 UTRdb 263–4
pros and cons 183
regulatory element analysis 257 valine 298, 301
repeat saving 209 variable number of tandem repeats (VNTR)
sequence characterization 173
SNP visualization 195, 196 40, 41, 46–8
unspliced ESTs 374–5 databases 48
velocardiofacial syndrome (VCFS) 49
UCSC site 7, 8 version numbers 32
genome viewer 79 Virtual Comparative Map (VCMap) 124, 131,
mouse genome assembly 74
viewing applications 61 132
VISTA 131
UK Mouse Genome Centre 124, 125 VITESSE program 218–19
Unified Database for Human Genome Mapping vocabulary, controlled 28

(UDB) 154, 159 Whitehead Institute for Biomedical Research
UniGene clusters 35, 75, 82, 84, 191–2 124, 125

algorithm 330 wildcards 28
chromosome 3 340 WNT genes 24
chromosome 11 338
errors 339 yeast artificial chromosome (YAC) 12
EST clones 328 clones 152
homology assignments 87 physical maps 151–2
Human Transcriptome Map construction
yeast protein interactions 366–7
334 map 367–8
identity matches 88
SAGE analysis 326 Yeast Proteome Database 366
tags 337, 339 yeast two-hybrid system 351–2, 353, 354
UniSTS 35
University of California, Santa Cruz see UCSC zoo-FISH 131
Zucker, Michael 276–7


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