Bioinformatic Approaches to Detecting Copy Number Variation in Next Generation Sequencing Data for Clinical Diagnostics

R. Straver

Bioinformatic Approaches to Detecting Copy Number Variation in Next Generation Sequencing Data for Clinical Diagnostics

R. Straver

Clinical genetics

Research output: Thesis › Research VU University Amsterdam, graduation VU University Amsterdam

Original language	English
Qualification	Doctor of Philosophy
Awarding Institution	Vrije Universiteit Amsterdam
Supervisors/Advisors	Meijers-Heijboer, Hanne, Supervisor Reinders, M.J.T., Supervisor, External person Sistermans, Erik, Co-supervisor
Award date	14 Jun 2018
Publication status	Published - 2018

Cite this

@phdthesis{721fb06091b74fd29c5bb67204644d55,

title = "Bioinformatic Approaches to Detecting Copy Number Variation in Next Generation Sequencing Data for Clinical Diagnostics",

keywords = "Bioinformatics, Diagnostics, Noninvasive, Prenatal, Testing, Screening, NIPT, NIPS, NIPD, Cell free DNA, Fetal DNA, Fetal fraction, cfDNA, cffDNA, Chromosomal aberration, Aneuploidy, Trisomy, Monosomy, Copy number variation, CNV, FRA10B, Fragile sites, Nucleosome, Next generation sequencing, High throughput sequencing, Whole exome sequencing, Whole genome sequencing, Low coverage, WISECONDOR, WISExome, SANEFALCON, DEFRAG, Within-sample comparison, Liquid biopsy",

author = "R. Straver",

year = "2018",

language = "English",

school = "Vrije Universiteit Amsterdam",

}

TY - THES

T1 - Bioinformatic Approaches to Detecting Copy Number Variation in Next Generation Sequencing Data for Clinical Diagnostics

AU - Straver, R.

PY - 2018

Y1 - 2018

KW - Bioinformatics

KW - Diagnostics

KW - Noninvasive

KW - Prenatal

KW - Testing

KW - Screening

KW - NIPT

KW - NIPS

KW - NIPD

KW - Cell free DNA

KW - Fetal DNA

KW - Fetal fraction

KW - cfDNA

KW - cffDNA

KW - Chromosomal aberration

KW - Aneuploidy

KW - Trisomy

KW - Monosomy

KW - Copy number variation

KW - CNV

KW - FRA10B

KW - Fragile sites

KW - Nucleosome

KW - Next generation sequencing

KW - High throughput sequencing

KW - Whole exome sequencing

KW - Whole genome sequencing

KW - Low coverage

KW - WISECONDOR

KW - WISExome

KW - SANEFALCON

KW - DEFRAG

KW - Within-sample comparison

KW - Liquid biopsy

M3 - Research VU University Amsterdam, graduation VU University Amsterdam

ER -