Exploring personal genomics:
Gespeichert in:
| Hauptverfasser: | , |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Oxford
Oxford Univ. Press
2013
|
| Ausgabe: | 1. publ., repr. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | Hier auch später erschienene, unveränderte Nachdrucke Includes bibliographical references and index |
| Beschreibung: | XI, 243 S. Ill., graph. Darst., Kt. 26 cm |
| ISBN: | 9780199644483 0199644489 9780199644490 0199644497 |
Internformat
MARC
| LEADER | 00000nam a2200000 c 4500 | ||
|---|---|---|---|
| 001 | BV041080226 | ||
| 003 | DE-604 | ||
| 005 | 20160831 | ||
| 007 | t | ||
| 008 | 130611s2013 xxkabd| |||| 00||| eng d | ||
| 010 | |a 2012540883 | ||
| 015 | |a GBB295751 |2 dnb | ||
| 020 | |a 9780199644483 |c hbk. |9 978-0-19-964448-3 | ||
| 020 | |a 0199644489 |c hbk. |9 0-19-964448-9 | ||
| 020 | |a 9780199644490 |c pbk. |9 978-0-19-964449-0 | ||
| 020 | |a 0199644497 |c pbk. |9 0-19-964449-7 | ||
| 035 | |a (OCoLC)827254002 | ||
| 035 | |a (DE-599)BVBBV041080226 | ||
| 040 | |a DE-604 |b ger |e aacr | ||
| 041 | 0 | |a eng | |
| 044 | |a xxk |c GB | ||
| 049 | |a DE-578 |a DE-355 |a DE-11 |a DE-20 | ||
| 050 | 0 | |a QH447 | |
| 082 | 0 | |a 572.86 | |
| 084 | |a WG 7000 |0 (DE-625)148612: |2 rvk | ||
| 084 | |a QU 460 |2 nlm | ||
| 100 | 1 | |a Dudley, Joel T. |e Verfasser |0 (DE-588)1035735407 |4 aut | |
| 245 | 1 | 0 | |a Exploring personal genomics |c Joel T. Dudley ; Konrad J. Karczewski |
| 250 | |a 1. publ., repr. | ||
| 264 | 1 | |a Oxford |b Oxford Univ. Press |c 2013 | |
| 300 | |a XI, 243 S. |b Ill., graph. Darst., Kt. |c 26 cm | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 500 | |a Hier auch später erschienene, unveränderte Nachdrucke | ||
| 500 | |a Includes bibliographical references and index | ||
| 650 | 4 | |a Genomics | |
| 650 | 4 | |a Genetics, Medical | |
| 650 | 4 | |a Genome | |
| 650 | 4 | |a Individualized Medicine | |
| 650 | 0 | 7 | |a Genanalyse |0 (DE-588)4200230-8 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Individualisierte Medizin |0 (DE-588)7660544-9 |2 gnd |9 rswk-swf |
| 689 | 0 | 0 | |a Individualisierte Medizin |0 (DE-588)7660544-9 |D s |
| 689 | 0 | 1 | |a Genanalyse |0 (DE-588)4200230-8 |D s |
| 689 | 0 | |C b |5 DE-604 | |
| 700 | 1 | |a Karczewski, Konrad J. |e Verfasser |0 (DE-588)1035735660 |4 aut | |
| 856 | 4 | 2 | |m HBZ Datenaustausch |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=026057031&sequence=000004&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
| 999 | |a oai:aleph.bib-bvb.de:BVB01-026057031 | ||
Datensatz im Suchindex
| _version_ | 1804150451111723008 |
|---|---|
| adam_text | Titel: Exploring personal genomics
Autor: Dudley, Joel T
Jahr: 2013
Contents
Foreword vii
George M. Church
Introduction ix
Acknowledgments xi
Part I
1. A gentle introduction to genomics 3
1.1 Introduction 3
1.2 What is a genome? 3
1.3 How does a genome work? 8
1.4 Gene regulation: when and where a gene is expressed 11
1.5 The human epigenome 13
1.6 Replication and reproduction 14
1.7 Genetic variation 16
2. Practical and ethical considerations in personal genomics 24
2.1 Considerations when obtaining personal genomic information 24
2.2 Limitations of personal genomics 25
2.3 Risks of personal genomics 30
2.4 Summary 33
3. Getting started with personal genomics 34
3.1 Obtaining personal genomic information 34
3.2 From DNA to raw data 36
3.3 Working with personal genomic data 47
3.4 Conclusion 50
4. Visualizing personal genomics 52
4.1 Introduction 52
4.2 Tabular views 53
4.3 Ideograms 57
iii
4.4 Genome browsers 61
4.5 Visual quantitative assessment 67
4.6 Integrative visualizations 71
4.7 Conclusion 74
5. Ancestry and genealogy 76
5.1 The genetics of human ancestry 76
5.2 Global genetic similarity 78
5.3 Genetic similarity between individuals 86
5.4 Identity by descent 89
5.5 Familial lineages 92
5.6 Genetic anthropology and ancient human DNA 95
5.7 Conclusions 98
6. Genetic trait associations 100
6.1 Introduction 100
6.2 Discovery of genetic trait associations 100
6.3 Genetic disease associations 111
6.4 Application and interpretation of genetic associations 117
6.5 Quantitative trait inference 135
6.6 Summary 137
7. Pharmacogenomics 139
7.1 What is pharmacogenomics? 139
7.2 Mapping common pharmacogenomic variants 142
7.3 Major applications of pharmacogenomics 146
7.4 Assessment of rare variants in PD/PK genes 149
7.5 Variation in pharmacogenomic pathways 155
7.6 Conclusion 158
Part II
8. Personal genomics and the environment 163
8.1 Introduction 163
8.2 Nutritional genomics 164
8.3 Environmental toxins 167
8.4 Metagenomics and infectious disease 174
8.5 Identifying personal genetic risk modifiers 174
8.6 Summary 178
9. From DNA to physiology 181
9.1 Introduction 181
9.2 Bridging DNA and physiology through gene regulation 182
9.3 Creating personal genomic eQTL profiles 184
CONTENTS v
9.4 Personal genomic eQTL enrichment analysis 187
9.5 Functional assessment of personal genomic regulatory variants 193
9.6 Linking to further aspects of physiology 195
9.7 Summary 197
10. Rare and novel variants 199
10.1 General challenges 200
10.2 Compound heterozygosity 202
10.3 Evolutionary conservation 204
10.4 Rare variants in coding regions 208
10.5 Rare variants in non-coding regions 211
10.6 Practical application of rare variant assessment tools 213
10.7 Further challenges 218
11. Structural variation 221
11.1 Copy number variation 223
11.2 More complex events (insertions, inversions, translocations) 225
11.3 Challenges 228
Conclusion 232
Glossary
Index
233
241
|
| any_adam_object | 1 |
| author | Dudley, Joel T. Karczewski, Konrad J. |
| author_GND | (DE-588)1035735407 (DE-588)1035735660 |
| author_facet | Dudley, Joel T. Karczewski, Konrad J. |
| author_role | aut aut |
| author_sort | Dudley, Joel T. |
| author_variant | j t d jt jtd k j k kj kjk |
| building | Verbundindex |
| bvnumber | BV041080226 |
| callnumber-first | Q - Science |
| callnumber-label | QH447 |
| callnumber-raw | QH447 |
| callnumber-search | QH447 |
| callnumber-sort | QH 3447 |
| callnumber-subject | QH - Natural History and Biology |
| classification_rvk | WG 7000 |
| ctrlnum | (OCoLC)827254002 (DE-599)BVBBV041080226 |
| dewey-full | 572.86 |
| dewey-hundreds | 500 - Natural sciences and mathematics |
| dewey-ones | 572 - Biochemistry |
| dewey-raw | 572.86 |
| dewey-search | 572.86 |
| dewey-sort | 3572.86 |
| dewey-tens | 570 - Biology |
| discipline | Biologie |
| edition | 1. publ., repr. |
| format | Book |
| fullrecord | <?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>02030nam a2200541 c 4500</leader><controlfield tag="001">BV041080226</controlfield><controlfield tag="003">DE-604</controlfield><controlfield tag="005">20160831 </controlfield><controlfield tag="007">t</controlfield><controlfield tag="008">130611s2013 xxkabd| |||| 00||| eng d</controlfield><datafield tag="010" ind1=" " ind2=" "><subfield code="a">2012540883</subfield></datafield><datafield tag="015" ind1=" " ind2=" "><subfield code="a">GBB295751</subfield><subfield code="2">dnb</subfield></datafield><datafield tag="020" ind1=" " ind2=" "><subfield code="a">9780199644483</subfield><subfield code="c">hbk.</subfield><subfield code="9">978-0-19-964448-3</subfield></datafield><datafield tag="020" ind1=" " ind2=" "><subfield code="a">0199644489</subfield><subfield code="c">hbk.</subfield><subfield code="9">0-19-964448-9</subfield></datafield><datafield tag="020" ind1=" " ind2=" "><subfield code="a">9780199644490</subfield><subfield code="c">pbk.</subfield><subfield code="9">978-0-19-964449-0</subfield></datafield><datafield tag="020" ind1=" " ind2=" "><subfield code="a">0199644497</subfield><subfield code="c">pbk.</subfield><subfield code="9">0-19-964449-7</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)827254002</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)BVBBV041080226</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-604</subfield><subfield code="b">ger</subfield><subfield code="e">aacr</subfield></datafield><datafield tag="041" ind1="0" ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="044" ind1=" " ind2=" "><subfield code="a">xxk</subfield><subfield code="c">GB</subfield></datafield><datafield tag="049" ind1=" " ind2=" "><subfield code="a">DE-578</subfield><subfield code="a">DE-355</subfield><subfield code="a">DE-11</subfield><subfield code="a">DE-20</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">QH447</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">572.86</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">WG 7000</subfield><subfield code="0">(DE-625)148612:</subfield><subfield code="2">rvk</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">QU 460</subfield><subfield code="2">nlm</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Dudley, Joel T.</subfield><subfield code="e">Verfasser</subfield><subfield code="0">(DE-588)1035735407</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Exploring personal genomics</subfield><subfield code="c">Joel T. Dudley ; Konrad J. Karczewski</subfield></datafield><datafield tag="250" ind1=" " ind2=" "><subfield code="a">1. publ., repr.</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="a">Oxford</subfield><subfield code="b">Oxford Univ. Press</subfield><subfield code="c">2013</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">XI, 243 S.</subfield><subfield code="b">Ill., graph. Darst., Kt.</subfield><subfield code="c">26 cm</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="b">n</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="b">nc</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">Hier auch später erschienene, unveränderte Nachdrucke</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">Includes bibliographical references and index</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Genomics</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Genetics, Medical</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Genome</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Individualized Medicine</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Genanalyse</subfield><subfield code="0">(DE-588)4200230-8</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="650" ind1="0" ind2="7"><subfield code="a">Individualisierte Medizin</subfield><subfield code="0">(DE-588)7660544-9</subfield><subfield code="2">gnd</subfield><subfield code="9">rswk-swf</subfield></datafield><datafield tag="689" ind1="0" ind2="0"><subfield code="a">Individualisierte Medizin</subfield><subfield code="0">(DE-588)7660544-9</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2="1"><subfield code="a">Genanalyse</subfield><subfield code="0">(DE-588)4200230-8</subfield><subfield code="D">s</subfield></datafield><datafield tag="689" ind1="0" ind2=" "><subfield code="C">b</subfield><subfield code="5">DE-604</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Karczewski, Konrad J.</subfield><subfield code="e">Verfasser</subfield><subfield code="0">(DE-588)1035735660</subfield><subfield code="4">aut</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="m">HBZ Datenaustausch</subfield><subfield code="q">application/pdf</subfield><subfield code="u">http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=026057031&sequence=000004&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA</subfield><subfield code="3">Inhaltsverzeichnis</subfield></datafield><datafield tag="999" ind1=" " ind2=" "><subfield code="a">oai:aleph.bib-bvb.de:BVB01-026057031</subfield></datafield></record></collection> |
| id | DE-604.BV041080226 |
| illustrated | Illustrated |
| indexdate | 2024-07-10T00:39:08Z |
| institution | BVB |
| isbn | 9780199644483 0199644489 9780199644490 0199644497 |
| language | English |
| lccn | 2012540883 |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-026057031 |
| oclc_num | 827254002 |
| open_access_boolean | |
| owner | DE-578 DE-355 DE-BY-UBR DE-11 DE-20 |
| owner_facet | DE-578 DE-355 DE-BY-UBR DE-11 DE-20 |
| physical | XI, 243 S. Ill., graph. Darst., Kt. 26 cm |
| publishDate | 2013 |
| publishDateSearch | 2013 |
| publishDateSort | 2013 |
| publisher | Oxford Univ. Press |
| record_format | marc |
| spelling | Dudley, Joel T. Verfasser (DE-588)1035735407 aut Exploring personal genomics Joel T. Dudley ; Konrad J. Karczewski 1. publ., repr. Oxford Oxford Univ. Press 2013 XI, 243 S. Ill., graph. Darst., Kt. 26 cm txt rdacontent n rdamedia nc rdacarrier Hier auch später erschienene, unveränderte Nachdrucke Includes bibliographical references and index Genomics Genetics, Medical Genome Individualized Medicine Genanalyse (DE-588)4200230-8 gnd rswk-swf Individualisierte Medizin (DE-588)7660544-9 gnd rswk-swf Individualisierte Medizin (DE-588)7660544-9 s Genanalyse (DE-588)4200230-8 s b DE-604 Karczewski, Konrad J. Verfasser (DE-588)1035735660 aut HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=026057031&sequence=000004&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Dudley, Joel T. Karczewski, Konrad J. Exploring personal genomics Genomics Genetics, Medical Genome Individualized Medicine Genanalyse (DE-588)4200230-8 gnd Individualisierte Medizin (DE-588)7660544-9 gnd |
| subject_GND | (DE-588)4200230-8 (DE-588)7660544-9 |
| title | Exploring personal genomics |
| title_auth | Exploring personal genomics |
| title_exact_search | Exploring personal genomics |
| title_full | Exploring personal genomics Joel T. Dudley ; Konrad J. Karczewski |
| title_fullStr | Exploring personal genomics Joel T. Dudley ; Konrad J. Karczewski |
| title_full_unstemmed | Exploring personal genomics Joel T. Dudley ; Konrad J. Karczewski |
| title_short | Exploring personal genomics |
| title_sort | exploring personal genomics |
| topic | Genomics Genetics, Medical Genome Individualized Medicine Genanalyse (DE-588)4200230-8 gnd Individualisierte Medizin (DE-588)7660544-9 gnd |
| topic_facet | Genomics Genetics, Medical Genome Individualized Medicine Genanalyse Individualisierte Medizin |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=026057031&sequence=000004&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT dudleyjoelt exploringpersonalgenomics AT karczewskikonradj exploringpersonalgenomics |