Instruct: Identify the main and secondary category of Arxiv papers based on the titles and abstracts
Query: Phenotyping with Positive Unlabelled Learning for Genome-Wide
  Association Studies   Identifying phenotypes plays an important role in furthering our
understanding of disease biology through practical applications within
healthcare and the life sciences. The challenge of dealing with the
complexities and noise within electronic health records (EHRs) has motivated
applications of machine learning in phenotypic discovery. While recent research
has focused on finding predictive subtypes for clinical decision support, here
we instead focus on the noise that results in phenotypic misclassification,
which can reduce a phenotypes ability to detect associations in genome-wide
association studies (GWAS). We show that by combining anchor learning and
transformer architectures into our proposed model, AnchorBERT, we are able to
detect genomic associations only previously found in large consortium studies
with 5$\times$ more cases. When reducing the number of controls available by
50\%, we find our model is able to maintain 40\% more significant genomic
associations from the GWAS catalog compared to standard phenotype definitions.
\keywords{Phenotyping \and Machine Learning \and Semi-Supervised \and Genetic
Association Studies \and Biological Discovery}

21
The categories of this paper are: adap-org
4
The categories of this paper are: cond-mat
28
The categories of this paper are: alg-geom
5
The categories of this paper are: gr-qc
6
The categories of this paper are: astro-ph
29
The categories of this paper are: funct-an
31
The categories of this paper are: ao-sci
25
The categories of this paper are: patt-sol
22
The categories of this paper are: chao-dyn
11
The categories of this paper are: hep-lat
12
The categories of this paper are: nucl-th
34
The categories of this paper are: chem-ph
10
The categories of this paper are: q-bio
8
The categories of this paper are: hep-ex
18
The categories of this paper are: econ
17
The categories of this paper are: q-fin