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Highlighted samples from the BCH CRDC

These exomes are from some of the patients and family members detailed in our forthcoming publication, Children’s Rare Disease Cohorts: an integrative research and clinical genomics initiative. While this paper details an institutional collection of exomes, the samples here were specifically highlighted as having significant findings.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001006179 Illumina NovaSeq 6000 30
Publications Citations
Children's rare disease cohorts: an integrative research and clinical genomics initiative.
NPJ Genom Med 5: 2020 29
30