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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
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- 2015.1
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De novo variants (DNVs) can arise during parental germ cell formation, fertilization, and the processes of embryogenesis. It is estimated that each individual carries 60-100 such spontaneous variants in the genome, most of them benign. However, a number of recent studies suggested that DNVs contribute to the pathogenesis of a variety of human diseases. Applications of DNVs include aiding in clinical diagnosis and identifying disease-causing genetic factors in patients with atypical symptoms. Therefore, understanding the roles of DNVs in a trio, with healthy parents and an affected offspring, would be crucial in elucidating the genetic mechanism of disease pathogenesis in a personalized manner.
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참고문헌 (15)
참고문헌 신청
Veltman JA / 2012 / De novo mutations in human genetic disease / Nat Rev Genet 13:565~575
Michaelson JJ / 2012 / Whole-genome sequencing in autism identifies hot spots for de novo germline mutation / Cell 151:1431~1442
Sanders SJ / 2012 / De novo mutations revealed by whole-exome sequencing are strongly associated with autism / Nature 485:237~241
Gratten J / 2013 / Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease / Nat Genet 45:234~238
Neale BM / 2012 / Patterns and rates of exonic de novo mutations in autism spectrum disorders / Nature 485:242~245
Michaelson JJ / 2012 / Whole-genome sequencing in autism identifies hot spots for de novo germline mutation / Cell 151:1431~1442
Sanders SJ / 2012 / De novo mutations revealed by whole-exome sequencing are strongly associated with autism / Nature 485:237~241
Gratten J / 2013 / Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease / Nat Genet 45:234~238
Neale BM / 2012 / Patterns and rates of exonic de novo mutations in autism spectrum disorders / Nature 485:242~245
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