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Mosaicism
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mosaic embryo transfer.
An overview of the latest published outcome data following mosaic embryo transfer by CooperSurgical Fertility and Genomic Solutions...
Lili Li
Jun 30, 20201 min read
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clinically relevant mosaicism likely underestimated
"mosaic variants considered likely or definitively contributory to phenotype were detected in approximately 1.5% of probands in whom a...
Lili Li
Jun 28, 20201 min read
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Germline de novo or mosaicism?
"The current genomic sequencing standard is the need for at least 30-fold coverage, the authors suggested that at least 100-fold coverage...
Lili Li
Jan 31, 20191 min read
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mosaic cancer predisposition by PPM1D, the etiology is genetic, but not hereditary
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3759028/ PPM1D is Wild-type p53-induced phosphatase 1, gene dose upregulation was reported...
Lili Li
Jan 10, 20191 min read
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8% cells mutated causes LQTS
Long QT syndrome (LQTS) in a girl infant caused by 8% of cells carrying a SCN5A mutation.The prevalence of mosaicism among patients with...
Lili Li
Jan 6, 20191 min read
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Dr. Saumya Jamuar recommends TruSeq Custom Amplicon for detecting mosaicism.
"Sanger sequencing has a limit of detection of about 15–20% for mosaic variants. When trying to detect mosaicism, we showed that the...
Lili Li
Jan 3, 20191 min read
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Mosaicism Review
" The phenotypic consequences of somatic mosaicism are dependent upon many factors including the developmental time at which the mutation...
Lili Li
Dec 28, 20181 min read
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The Brain Somatic Mosaicism Network
"The National Institute of Mental Health (NIMH) has formed a network of 18 investigative teams representing 15 institutions called the...
Lili Li
Dec 27, 20181 min read
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Somatic Brain Mosaicism
"Rearrangements can often occur in normal CNS stem and progenitor cells, albeit with an assay that captures DSB translocations to “baits”...
Lili Li
Dec 26, 20181 min read
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Mosaicism and Hemimegalencephaly
“somatic mutations in several genes (PIK3CA, AKT3, and mTOR) cause enlargement of just one hemisphere of the brain, a malformation called...
Lili Li
Dec 16, 20181 min read
41 views
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