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Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted for. Advances in sequencing technology enable focused explorations… Click to show full abstract
Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted for. Advances in sequencing technology enable focused explorations on the contribution of low-frequency and rare variants to human traits. Here we review experimental approaches and current knowledge on the contribution of these genetic variants in complex disease and discuss challenges and opportunities for personalised medicine.
Keywords:
impact rare;
genetic variants;
frequency genetic;
rare low;
low frequency
Journal Title: Genome Biology
Year Published: 2017
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Journal Title: Genome Biology
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!