title: The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.
abstract: BACKGROUND
  Identification of the causative genes of retinitis pigmentosa (RP) is important for the clinical care of patients with RP. However, a comprehensive genetic study has not been performed in Korean RP patients. Moreover, the genetic heterogeneity found in sensorineural genetic disorders makes identification of pathogenic mutations challenging. Therefore, high throughput genetic testing using massively parallel sequencing is needed.
  
  
  RESULTS
  Sixty-two Korean patients with nonsyndromic RP (46 patients from 18 families and 16 simplex cases) who consented to molecular genetic testing were recruited in this study and targeted exome sequencing was applied on 53 RP-related genes. Causal variants were characterised by selecting exonic and splicing variants, selecting variants with low allele frequency (below 1 %), and discarding the remaining variants with quality below 20. The variants were additionally confirmed by an inheritance pattern and cosegregation test of the families, and the rest of the variants were prioritised using in-silico prediction tools. Finally, causal variants were detected from 10 of 18 familial cases (55.5 %) and 7 of 16 simplex cases (43.7 %) in total. Novel variants were detected in 13 of 20 (65 %) candidate variants. Compound heterozygous variants were found in four of 7 simplex cases.
  
  
  CONCLUSIONS
  Panel-based targeted re-sequencing can be used as an effective molecular diagnostic tool for RP.
authors.affiliation: Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Chang-Ki
authors.initials: CK
authors.lastname: Yoon
authors.affiliation: Samsung Genome Institute, Samsung Medical Center, Seoul, Korea.
authors.forename: Nayoung K D
authors.initials: NK
authors.lastname: Kim
authors.affiliation: Samsung Genome Institute, Samsung Medical Center, Seoul, Korea.
authors.forename: Je-Gun
authors.initials: JG
authors.lastname: Joung
authors.affiliation: Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Joo Young
authors.initials: JY
authors.lastname: Shin
authors.affiliation: Department of Ophthalmology, Seoul Paik Hospital, Inje University, Seoul, Korea.
authors.forename: Jung Hyun
authors.initials: JH
authors.lastname: Park
authors.affiliation: Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea.|Samsung Genome Institute, Samsung Medical Center, Seoul, Korea.
authors.forename: Hye-Hyun
authors.initials: HH
authors.lastname: Eum
authors.affiliation: Samsung Genome Institute, Samsung Medical Center, Seoul, Korea.
authors.forename: Hae-Ock
authors.initials: HO
authors.lastname: Lee
authors.affiliation: Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Seoul, Korea. woongyang@skku.edu.|Samsung Genome Institute, Samsung Medical Center, Seoul, Korea. woongyang@skku.edu.
authors.forename: Woong-Yang
authors.initials: WY
authors.lastname: Park
authors.affiliation: Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea. hgonyu@snu.ac.kr.
authors.forename: Hyeong Gon
authors.initials: HG
authors.lastname: Yu
mesh_terms: D044466:Asian People / Q000235:genetics*; D059472:Exome; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D014644:Genetic Variation; D059014:High-Throughput Nucleotide Sequencing / Q000191:economics / Q000379:methods*; D006801:Humans; D008297:Male; D010375:Pedigree; D056910:Republic of Korea; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000191:economics / Q000379:methods*