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Research
mao xiao
Maternal and Child Health Hospital of Hunan Province
Corresponding Author
ORCiD: https://orcid.org/0000-0003-1455-0858
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background：There was a lacking of clinical diagnostic evidence in follow-up studies for reporting of secondary variants in 59 genes in American College of Medical Genetics and Genomics recommendations for reporting secondary findings and various strategies were applied to interpret the secondary variants.
Results: Out of 1330 participants performed whole-exome sequencing, we identified 15 families with convincing clinical evidence. After Sanger validation and a comprehensive clinical follow-up, 10 families with both convincing clinical evidence and convincing genetic evidence of hereditary variants were found. Detailed clinical presentations and related clinical evidence were collected.
Conclusions: Our research is a comprehensive follow-up study to identify secondary variants with convincing genetic and clinical evidence and it could help improve the strategy of screening actionable secondary variants and contribute to translation of genetic findings into medical practice.
Keywords
follow-up study, secondary findings, secondary variants, whole-exome sequencing, family
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This is a preprint. It has not completed peer review.
Research
mao xiao
Maternal and Child Health Hospital of Hunan Province
Corresponding Author
ORCiD: https://orcid.org/0000-0003-1455-0858
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
History
CURRENT STATUS: Posted
Version 1
Posted 05 Aug, 2020
No community comments so far
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background：There was a lacking of clinical diagnostic evidence in follow-up studies for reporting of secondary variants in 59 genes in American College of Medical Genetics and Genomics recommendations for reporting secondary findings and various strategies were applied to interpret the secondary variants.
Results: Out of 1330 participants performed whole-exome sequencing, we identified 15 families with convincing clinical evidence. After Sanger validation and a comprehensive clinical follow-up, 10 families with both convincing clinical evidence and convincing genetic evidence of hereditary variants were found. Detailed clinical presentations and related clinical evidence were collected.
Conclusions: Our research is a comprehensive follow-up study to identify secondary variants with convincing genetic and clinical evidence and it could help improve the strategy of screening actionable secondary variants and contribute to translation of genetic findings into medical practice.
Figure 1
Figure 2
Figure 3
Figure 4
Figure 5
Figure 6
Figure 7
Figure 8
Figure 9
Figure 10
Figure 11
Figure 12
Figure 13
Figure 14
Figure 15
Figure 16
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Figure 19
Figure 20
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Figure 22
Figure 23
Figure 24
Figure 25
Figure 26
Figure 27
Figure 28
Figure 29
Figure 30
Figure 31
Figure 32
Figure 33
Figure 34
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