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A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

Ye CaoMari J TokitaEdward S ChenRajarshi GhoshTiansheng ChenYanming FengElizabeth GormanFederica GibelliniPatricia A WardAlicia BraxtonXia WangLinyan MengRui XiaoWeimin BiFan XiaChristine M EngYaping YangTomasz GambinChad ShawPengfei LiuPrzemyslaw Szafranski
Published in: Genome medicine (2019)
In sum, an estimated 1.5% of all molecular diagnoses made in this cohort could be attributed to a mosaic variant detected in the proband, while parental mosaicism was identified in 0.3% of families analyzed. As ES design favors breadth over depth of coverage, this estimate of the prevalence of mosaic variants likely represents an underestimate of the total number of clinically relevant mosaic variants in our cohort.
Keyphrases
  • copy number
  • genome wide
  • risk factors
  • single cell
  • cross sectional
  • dna methylation
  • single molecule
  • transcription factor
  • affordable care act