Clinicians described an increased workload, but the majority (n = 23 [72%]) regarded this as “insignificant.” More challenging was the requirement to decide on patients’ suitability for testing (n = 13 [41%] “somewhat significant” or “very significant”) and the need to perform extra research into reported variants (n = 13 [44%] “somewhat significant or “very significant”).
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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
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