Publication
| Greer SU, Botello J, Hongo D, Levy B, Shah P, Rabinowitz M, Miller DE, Im K, Kumar A, Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic Journal of translational medicine21:378 2023 |
| PubMed ID: 37301971 |
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| Records Return:
(8)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM04099 | Female | 27 YR | 660 | mother | MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | GM |
| GM24385 | Male | 45 YR | 3140 | proband | PERSONAL GENOME PROJECT | GM |
| GM09981 | Male | 13 YR | 1145 | proband | MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | GM |
| GM10636 | Female | 2 YR | | proband | DUPLICATED CHROMOSOME | GM |
| GM12606 | Male | 9 MO | | proband | CHROMOSOME DELETION | GM |
| GM08808 | Male | 3 MO | | proband | CHROMOSOME DELETION | GM |
| GM09326 | Male | 2 MO | | proband | XYY SYNDROME | GM |
| GM22397 | Male | 16 YR | | proband | DUPLICATED CHROMOSOME | GM |
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