Search Results - "Loftus, Elle C"
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Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases
Published in Orphanet journal of rare diseases (24-05-2024)“…Though next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from exome and genome data (EGBP) are…”
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Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
Published in Journal of translational medicine (23-06-2023)“…In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million…”
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Journal Article