Instruct: Identify the main and secondary category of Arxiv papers based on the titles and abstracts
Query: GEMINI: integrative exploration of genetic variation and genome
  annotations   Modern DNA sequencing technologies enable geneticists to rapidly identify
genetic variation among many human genomes. However, isolating the minority of
variants underlying disease remains an important, yet formidable challenge for
medical genetics. We have developed GEMINI (GEnome MINIng), a flexible software
package for exploring all forms of human genetic variation. Unlike existing
tools, GEMINI integrates genetic variation with a diverse and flexible set of
genome annotations (e.g., dbSNP, ENCODE, UCSC, ClinVar, KEGG) into a unified
database to facilitate interpretation and data exploration. Whereas other
methods provide an inflexible set of variant filters or variant prioritization
methods, GEMINI allows researchers to compose complex queries based on sample
genotypes, inheritance patterns, and both pre-installed and custom genome
annotations. GEMINI also provides methods for ad hoc queries and data
exploration, a simple programming interface for custom analyses that leverage
the underlying database, and both command line and graphical tools for common
analyses. We demonstrate the utility of GEMINI for exploring variation in
personal genomes and family based genetic studies, and illustrate its ability
to scale to studies involving thousands of human samples. GEMINI is designed
for reproducibility and flexibility and our goal is to will provide researchers
with a standard framework for medical genomics.

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The categories of this paper are: hep-ph
27
The categories of this paper are: comp-gas
12
The categories of this paper are: nucl-th
23
The categories of this paper are: solv-int
2
The categories of this paper are: math
20
The categories of this paper are: acc-phys
21
The categories of this paper are: adap-org
14
The categories of this paper are: math-ph
33
The categories of this paper are: plasm-ph
16
The categories of this paper are: stat
36
The categories of this paper are: cmp-lg
26
The categories of this paper are: bayes-an
11
The categories of this paper are: hep-lat
9
The categories of this paper are: nlin
24
The categories of this paper are: dg-ga
1
The categories of this paper are: cs