Genome Biology
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HaploShare: identification of extended haplotypes shared by cases and evaluation against controls
Genome Biology - Tập 16 - Trang 1-14 - 2015
Recent founder mutations may play important roles in complex diseases and Mendelian disorders. Detecting shared haplotypes that are identical by descent (IBD) could facilitate discovery of these mutations. Several programs address this, but are usually limited to detecting pair-wise shared haplotypes and not providing a comparison of cases and controls. We present a novel algorithm and software pa...... hiện toàn bộ
A quantitative literature-curated gold standard for kinase-substrate pairs
Genome Biology - Tập 12 Số 4 - Trang R39 - 2011
Heat shock factor binding in Alu repeats expands its involvement in stress through an antisense mechanism
Genome Biology - Tập 12 Số 11 - Trang R117 - 2011
Identification of functional modules that correlate with phenotypic difference: the influence of network topology
Genome Biology - Tập 11 Số 2 - Trang R23 - 2010
Comparison of RNA-seq and microarray-based models for clinical endpoint prediction
Genome Biology - Tập 16 - Trang 1-12 - 2015
Gene expression profiling is being widely applied in cancer research to identify biomarkers for clinical endpoint prediction. Since RNA-seq provides a powerful tool for transcriptome-based applications beyond the limitations of microarrays, we sought to systematically evaluate the performance of RNA-seq-based and microarray-based classifiers in this MAQC-III/SEQC study for clinical endpoint predic...... hiện toàn bộ
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families
Genome Biology - Tập 16 - Trang 1-7 - 2015
Identifying genetic variants that lead to discernible phenotypes is the core of Mendelian genetics. An approach that considers embryonic lethality as a bona fide Mendelian phenotype has the potential to reveal novel genetic causes, which will further our understanding of early human development at a molecular level. Consanguineous families in which embryonic lethality segregates as a recessive Men...... hiện toàn bộ
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