Browsing Clinical Medicine (Scholarly Publications) by Subject "Rare genetic variation"
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Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis
(Springer Nature, 2018)The most recent genome-wide association study in amyotrophic lateral sclerosis (ALS) demonstrates a disproportionate contribution from low-frequency variants to genetic susceptibility to disease. We have therefore begun ...