Table 2 Summary of diagnostic rate

From: Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Primary symptoms

All

ES or GSa

GS-SVb

GS-RNAseqc

All

38% (38/100)

23% (23/100)

13% (8/60)

15% (7/48)

Neurology

38% (18/47)

17% (9/47)

19% (6/32)

12% (3/25)

Musculoskeletal and orthopedics

52% (11/21)

33% (7/21)

0% (0/13)

33% (4/12)

Multiple congenital anomalies

30% (3/10)

20% (2/10)

20% (1/5)

0% (0/3)

Gastroenterology

0% (0/7)

0% (0/7)

0% (0/5)

0% (0/5)

Endocrinology

50% (2/4)

50% (2/4)

–

–

Dermatology

67% (2/3)

33% (1/3)

100% (1/1)

–

Allergies and disorders of the immune system

0% (0/2)

0% (0/2)

0% (0/1)

0% (0/1)

Infectious diseases

50% (1/2)

50% (1/2)

0% (0/1)

–

Cardiology and vascular conditions

50% (1/2)

50% (1/2)

0% (0/1)

0% (0/1)

Rheumatology

0% (0/1)

0% (0/1)

0% (0/1)

0% (0/1)

Pulmonology

0% (0/1)

0% (0/1)

–

–

  1. aES or GS: Cases diagnosed by exome or genome sequencing with single-nucleotide variant (SNV)/indel within coding exons and essential splice site (+/−2bp) that are predicted to be nonsynonymous or loss-of-function. One exome sequencing case that was diagnosed with a recurrent deep intronic pathogenic variant in COL6A1 is included in this category.
  2. bGS-SV: Cases diagnosed by structural variants affecting coding exons called from genome sequencing data. A case with mixed triploidy and a case with repeat expansion are included in this category.
  3. cGS-RNAseq: Cases diagnosed by integrating RNAseq data with genome sequencing data.
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