Our very high coverage data (99.8% of 183.4 million (site X sample) genotype calls had a read depth of ≥40 and 96.6% had a read depth of >100; Supplementary Fig. 1) enabled stringent data filtering on ...
Novel Gene and Variant Discovery in Human Genetic Disorders: From Coding and Non-Coding RNA variants
Rapid advances in sequencing technologies have transformed our ability to diagnose human genetic disorders, yet many patients still lack a molecular ...
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