title: Opportunities and challenges of whole-genome and -exome sequencing.
abstract: Recent advances in the development of sequencing technologies provide researchers with unprecedented possibilities for genetic analyses. In this review, we will discuss the history of genetic studies and the progress driven by next-generation sequencing (NGS), using complex inflammatory bowel diseases as an example. We focus on the opportunities, but also challenges that researchers are facing when working with NGS data to unravel the genetic causes underlying diseases.
authors.affiliation: Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany.
authors.forename: Britt-Sabina
authors.initials: BS
authors.lastname: Petersen
authors.affiliation: Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany.
authors.forename: Broder
authors.initials: B
authors.lastname: Fredrich
authors.affiliation: Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany.
authors.forename: Marc P
authors.initials: MP
authors.lastname: Hoeppner
authors.affiliation: Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany.
authors.forename: David
authors.initials: D
authors.lastname: Ellinghaus
authors.affiliation: Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany. a.franke@mucosa.de.
authors.forename: Andre
authors.identifier: 0000-0003-1530-5811
authors.initials: A
authors.lastname: Franke
mesh_terms: D004194:Disease / Q000235:genetics; D059472:Exome / Q000235:genetics*; D023281:Genomics / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D017422:Sequence Analysis, DNA / Q000379:methods*
keywords: Complex diseases; Inflammatory bowel diseases; NGS; Next-generation sequencing; Variant priorization; Variants of unknown significance (VUS); WES; WGS; Whole-exome sequencing; Whole-genome sequencing