Publications
Filters: Author is Neale, Benjamin M [Clear All Filters]
Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies. Am J Hum Genet. 2024 ;.
. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013 ;77(2):235-42.
. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 ;485(7397):242-5.
. Mapping and characterization of structural variation in 17,795 human genomes. Nature. 2020 ;583(7814):83-89.
. Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. Nat Commun. 2018 ;9(1):4038.
. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014 ;46(9):944-50.
. Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale. Nat Genet. 2020 ;52(9):969-983.
. Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet. 2013 ;9(4):e1003443.
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