Skip to main content

Table 2 Details of exome sequencing

From: Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

Cohort Sequencing sitea (Capture Kit, Sequencing platform, Aligner) Participant ID Description Mean depth of coverage Mean depth of coverage, cohort average (SD) % of target region covered at least 20× % of target region covered at least 20×, cohort average (SD)
Discovery cohort ACHRI (Agilent SureSelect V5 + UTRs, Life Technologies SOLiD 5500xl, LifeScope 2.5) 18 Proband 141.4 132.7 (14.1) 91.88 931.79 (0.81)
   31 Mother of 18 143.9   91.62  
   22 Father of 18 136   90.93  
   37 Monozygotic twin of 18 133.5   90.97  
   25 Proband 125.4   92.01  
   51 Mother of 25 149.6   92.81  
   50 Father of 25 151.2   92.84  
   27 Proband 139.2   91.87  
   32 Mother of 27 128   91.11  
   33 Father of 27 126.3   90.94  
   41 Proband 124.5   90.92  
   47 Mother of 41 142.1   92.97  
   46 Father of 41 139.4   92.65  
   42 Proband 133.4   92.04  
   43 Mother of 42 127.2   91.55  
   44 Father of 42 119.1   90.91  
   45 Proband 122.2   91.73  
   48 Mother of 45 136.3   92.43  
   49 Father of 45 165.1   93.58  
   57 Proband 124.7   91.45  
   59 Mother of 57 113.4   90.55  
   58 Father of 57 98.5   91.57  
ᅟ
   18 Tumour 257 249.8 (40) 94.74 95.11 (0.54)
   27 Tumour 290.2   95.15  
   41 Tumour 258.3   95.85  
   57 Tumour 193.9   94.69  
ᅟ
Replication Cohort WASH U (Illumina All Exon 65 MB, Illumina HiSeq 2000, NovoAlign 2.07.13) 5 Proband 86.9 86.9 82.70 82.70
BGI (Agilent SureSelect V4, Illumina HiSeq 2000, BWA 0.5.9) 20 Proband 27.6 28.1 (1.7) 50.41 50.95 (1.79)
21 Proband 31.7 54.78
23 Proband 27.8 49.96
24 Proband 27.2 50.70
26 Proband 27.8 51.12
28 Proband 28 50.53
39 Proband 26.4 49.18
Perkin Elmer Corp (Agilent SureSelect Human All Exon 38 MB, Illumina HiSeq 2000, Bowtie 0.12.7) A032 Proband 76.6 76.6 65.96 65.96
  1. aACHRI: Alberta Children’s Hospital Research Institute, Calgary, Canada; WASH U: Washington University, St. Louis, USA; BGI: Beijing Genome Institute, Beijing, China
Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172