Whole Genome Sequencing and forensics genomics

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F21%3A73610619" target="_blank" >RIV/61989592:15110/21:73610619 - isvavai.cz</a>

Výsledek na webu

<a href="https://publications.jrc.ec.europa.eu/repository/handle/JRC125734" target="_blank" >https://publications.jrc.ec.europa.eu/repository/handle/JRC125734</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.2760/864087" target="_blank" >10.2760/864087</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Whole Genome Sequencing and forensics genomics

Popis výsledku v původním jazyce

Advances in the massively parallel sequencing will increase the availability of human whole genome sequences. These are being produced by national and international initiatives, healthcare projects, research projects, and even direct-to-consumer genomics companies. This report aims to evaluate the potential impacts, in the field of forensics, of the information generated by whole genome sequencing and the large-scale availability of whole genome sequences. Thus, this report provides a state of the art of use of large databases of human genome sequences to identify: The donor of a given genome sequence, mostly in the context of wanted or missing persons. The physical characteristics of the genome sequence donor, including medical conditions. The report starts with the definition of the genotyping target, the human genome, and the description of the genotyping methods to analyse it, including massively parallel sequencing. It proceeds with a description of the forensic genetics work processes, quality issues, and logical evidence interpretation. Then, it tackles DNA as Big Data that enables genealogical, biogeographical, phenotypic, and health searches and that requires informed consent and safeguarding against privacy breaches. It then depicts the Prüm Convention as a current model of forensic use of genetic data in European countries. Finally, the report summarizes findings and concerns, and provides final recommendations.

Název v anglickém jazyce

Whole Genome Sequencing and forensics genomics

Popis výsledku anglicky

Advances in the massively parallel sequencing will increase the availability of human whole genome sequences. These are being produced by national and international initiatives, healthcare projects, research projects, and even direct-to-consumer genomics companies. This report aims to evaluate the potential impacts, in the field of forensics, of the information generated by whole genome sequencing and the large-scale availability of whole genome sequences. Thus, this report provides a state of the art of use of large databases of human genome sequences to identify: The donor of a given genome sequence, mostly in the context of wanted or missing persons. The physical characteristics of the genome sequence donor, including medical conditions. The report starts with the definition of the genotyping target, the human genome, and the description of the genotyping methods to analyse it, including massively parallel sequencing. It proceeds with a description of the forensic genetics work processes, quality issues, and logical evidence interpretation. Then, it tackles DNA as Big Data that enables genealogical, biogeographical, phenotypic, and health searches and that requires informed consent and safeguarding against privacy breaches. It then depicts the Prüm Convention as a current model of forensic use of genetic data in European countries. Finally, the report summarizes findings and concerns, and provides final recommendations.

Druh

B - Odborná kniha

CEP obor

—

OECD FORD obor

10608 - Biochemistry and molecular biology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2021

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

ISBN

978-92-76-40265-7

Počet stran knihy

65

Název nakladatele

Publications Office of the European Union

Místo vydání

Luxembourgh

Kód UT WoS knihy

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