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The missing link between genetic association and regulatory function.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.74970
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- Article
Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits.
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- PLoS Genetics, 2022, v. 18, n. 12, p. 1, doi. 10.1371/journal.pgen.1010557
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- Article
Maintenance of Complex Trait Variation: Classic Theory and Modern Data.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.763363
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- Article
Replicate sequencing libraries are important for quantification of allelic imbalance.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23544-8
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- Article
Shared associations identify causal relationships between gene expression and immune cell phenotypes.
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- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01823-w
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- Article
Population-specific causal disease effect sizes in functionally important regions impacted by selection.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21286-1
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- Article
Applicability of the Mutation–Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans.
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- Molecular Biology & Evolution, 2019, v. 36, n. 8, p. 1701, doi. 10.1093/molbev/msz092
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- Article
Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection.
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- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08424-6
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- Article
PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants.
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- Genome Biology, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s13059-018-1546-6
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- Article
Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer.
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- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00100-x
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- Article
Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level.
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- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5244, doi. 10.1093/hmg/ddw324
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- Article
Excess of Deleterious Mutations around HLA Genes Reveals Evolutionary Cost of Balancing Selection.
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- Molecular Biology & Evolution, 2016, v. 33, n. 10, p. 2555, doi. 10.1093/molbev/msw127
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- Article
Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society.
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- Human Mutation, 2016, v. 37, n. 4, p. 406, doi. 10.1002/humu.22958
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An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood.
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- Rheumatology, 2016, v. 55, n. 3, p. 586, doi. 10.1093/rheumatology/kev367
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- Article
Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 5, p. 413, doi. 10.1002/mgg3.152
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- Article
Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases.
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- Nature Genetics, 2015, v. 47, n. 9, p. 1085, doi. 10.1038/ng.3379
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Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck.
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- PLoS Genetics, 2015, v. 11, n. 8, p. 1, doi. 10.1371/journal.pgen.1005436
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Identification of cis-suppression of human disease mutations by comparative genomics.
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- Nature, 2015, v. 524, n. 7564, p. 225, doi. 10.1038/nature14497
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Genome-wide patterns and properties of de novo mutations in humans.
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- Nature Genetics, 2015, v. 47, n. 7, p. 822, doi. 10.1038/ng.3292
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- Article
Cell-of-origin chromatin organization shapes the mutational landscape of cancer.
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- Nature, 2015, v. 518, n. 7539, p. 360, doi. 10.1038/nature14221
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- Article
Clinically Relevant Variants - Identifying, Collecting, Interpreting, and Disseminating: The 2013 Annual Scientific Meeting of the Human Genome Variation Society.
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- Human Mutation, 2014, v. 35, n. 4, p. 505, doi. 10.1002/humu.22516
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- Article
Reduced local mutation density in regulatory DNA of cancer genomes is linked to DNA repair.
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- Nature Biotechnology, 2014, v. 32, n. 1, p. 71, doi. 10.1038/nbt.2778
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Genomic variation landscape of the human gut microbiome.
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- Nature, 2013, v. 493, n. 7430, p. 45, doi. 10.1038/nature11711
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Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions.
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- Human Mutation, 2013, v. 34, n. 1, p. 255, doi. 10.1002/humu.22214
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- Article
Deleterious Alleles in the Human Genome Are on Average Younger Than Neutral Alleles of the Same Frequency.
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- PLoS Genetics, 2013, v. 9, n. 1, p. 1, doi. 10.1371/journal.pgen.1003301
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- Article
Network-based inference from complex proteomic mixtures using SNIPE.
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- Bioinformatics, 2012, v. 28, n. 23, p. 3115, doi. 10.1093/bioinformatics/bts594
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Inferring causality and functional significance of human coding DNA variants.
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- Human Molecular Genetics, 2012, v. 21, n. R1, p. R10, doi. 10.1093/hmg/dds385
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Exome sequencing and the genetic basis of complex traits.
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- Nature Genetics, 2012, v. 44, n. 6, p. 623, doi. 10.1038/ng.2303
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A method and server for predicting damaging missense mutations.
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- Nature Methods, 2010, v. 7, n. 4, p. 248, doi. 10.1038/nmeth0410-248
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Human mutation rate associated with DNA replication timing.
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- Nature Genetics, 2009, v. 41, n. 4, p. 393, doi. 10.1038/ng.363
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Adaptive Mutations in the JC Virus Protein Capsid Are Associated with Progressive Multifocal Leukoencephalopathy (PML).
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- PLoS Genetics, 2009, v. 5, n. 2, p. 1, doi. 10.1371/journal.pgen.1000368
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Assessing the Evolutionary Impact of Amino Acid Mutations in the Human Genome.
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- PLoS Genetics, 2008, v. 4, n. 5, p. 1, doi. 10.1371/journal.pgen.1000083
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Proportionally more deleterious genetic variation in European than in African populations.
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- Nature, 2008, v. 451, n. 7181, p. 994, doi. 10.1038/nature06611
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- Article
From analysis of protein structural alignments toward a novel approach to align protein sequences.
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- Proteins, 2004, v. 54, n. 3, p. 569, doi. 10.1002/prot.10503
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PSIC: profile extraction from sequence alignments with position-specific counts of independent observations.
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- Protein Engineering, 1999, v. 12, n. 5, p. 387, doi. 10.1093/protein/12.5.387
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Are knowledge-based potentials derived from protein structure sets discriminative with respect to amino acid types?
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- Proteins, 1998, v. 31, n. 3, p. 225, doi. 10.1002/(SICI)1097-0134(19980515)31:3<225::AID-PROT1>3.0.CO;2-I
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- Article