Associated Papers
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT et al.
Genome Medicine, 2023
37946251 (PubMed )
Supplement: 13073_2023_1240_MOESM3_ESM.xlsx › Table_S7_ResultsAllVariant
Uncovering Essential Tremor Genetics: The Promise of Long-Read Sequencing.
Marsili L et al.
Frontiers in Neurology, 2022
Sequencing of human genomes with nanopore technology.
Bowden R et al.
Nature Communications, 2019
Genomic and molecular characterization of esophageal squamous cell carcinoma.
Lin DC et al.
Nature Genetics, 2014
24686850 (PubMed )
Supplement: NIHMS573166-supplement-1.pdf
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