The Jackson Laboratory for Genomic Medicine APML DAC (rare disease research)

Dr Elizabeth A Werren
liz.werren@jax.org

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Dataset ID	Description	Technology	Samples
EGAD50000002109	This dataset contains genome sequencing data from 51 individuals from 19 different family trios/quads with rare disease who consented to data sharing. PacBio Revio HiFi data (FASTQ, unaligned or aligned BAM) are available for 48 samples, and Illumina NovaSeq 6000 FASTQ data are available for 13 samples (1 trio without HiFi data, plus 10 affected probands with corresponding HiFi data).	Illumina NovaSeq 6000 unspecified	51