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A hybrid computational strategy to address WGS variant analysis in >5000 samples.
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- BMC Bioinformatics, 2016, v. 17, p. 1, doi. 10.1186/s12859-016-1211-6
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- Article
REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1488
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- Article
Whole-genome sequence-based analysis of high-density lipoprotein cholesterol.
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- Nature Genetics, 2013, v. 45, n. 8, p. 899, doi. 10.1038/ng.2671
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- Article
Population Genomic Analysis of 962 Whole Genome Sequences of Humans Reveals Natural Selection in Non-Coding Regions.
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- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121644
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- Article
Possible Race and Gender Divergence in Association of Genetic Variations with Plasma von Willebrand Factor: A Study of ARIC and 1000 Genome Cohorts.
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0084810
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- Article
Recent clinical researches and technological development in TIL therapy.
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- Cancer Immunology, Immunotherapy, 2024, v. 73, n. 11, p. 1, doi. 10.1007/s00262-024-03793-4
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- Article
Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline.
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- BMC Bioinformatics, 2014, v. 15, n. 1, p. 3, doi. 10.1186/1471-2105-15-30
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- Article
Pash 3.0: A versatile software package for read mapping and integrative analysis of genomic and epigenomic variation using massively parallel DNA sequencing.
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- BMC Bioinformatics, 2010, v. 11, p. 572, doi. 10.1186/1471-2105-11-572
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- Article
Integrating common and rare genetic variation in diverse human populations.
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- Nature, 2010, v. 467, n. 7311, p. 52, doi. 10.1038/nature09298
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- Article
Reduced meiotic recombination in rhesus macaques and the origin of the human recombination landscape.
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- PLoS ONE, 2020, v. 15, n. 8, p. 1, doi. 10.1371/journal.pone.0236285
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- Article
Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms.
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- Genome Biology, 2012, v. 13, n. 2, p. 1, doi. 10.1186/gb-2012-13-2-r15
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- Article
The functional spectrum of low-frequency coding variation.
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- Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r84
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- Article
Extremely low-coverage whole genome sequencing in South Asians captures population genomics information.
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- BMC Genomics, 2017, v. 18, p. 1, doi. 10.1186/s12864-017-3767-6
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- Article
The International HapMap Project.
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- Nature, 2003, v. 426, n. 6968, p. 789, doi. 10.1038/nature02168
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- Article
Association of Single Nucleotide Polymorphisms in the ST3GAL4 Gene with VWF Antigen and Factor VIII Activity.
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- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0160757
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- Article
A multi‐class COVID‐19 segmentation network with pyramid attention and edge loss in CT images.
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- IET Image Processing (Wiley-Blackwell), 2021, v. 15, n. 11, p. 2604, doi. 10.1049/ipr2.12249
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- Article
Positive Selection of a Pre-Expansion CAG Repeat of the Human SCA2 Gene.
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- PLoS Genetics, 2005, v. 1, n. 3, p. 404, doi. 10.1371/journal.pgen.0010041
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- Article
Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development.
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- Human Mutation, 2017, v. 38, n. 6, p. 669, doi. 10.1002/humu.23207
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- Article
Base-Biased Evolution of Disease-Associated Mutations in the Human Genome.
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- Human Mutation, 2016, v. 37, n. 11, p. 1209, doi. 10.1002/humu.23065
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- Article
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.
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- Human Mutation, 2016, v. 37, n. 3, p. 231, doi. 10.1002/humu.22944
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- Article
Detecting natural selection by empirical comparison to random regions of the genome.
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- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4853, doi. 10.1093/hmg/ddp457
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- Article
Self-forming TiBN Nanocomposite Multilayer Coating Prepared by Pulse Cathode Arc Method.
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- Nanoscale Research Letters, 2016, v. 11, p. 1, doi. 10.1186/s11671-016-1564-9
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- Article
PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.
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- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1370-2
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- Article
The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes.
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- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1333-7
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- Article
Translational signatures and mRNA levels are highly correlated in human stably expressed genes.
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- BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-268
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- Article
Atlas2 Cloud: a framework for personal genome analysis in the cloud.
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- BMC Genomics, 2012, v. 13, n. Suppl 6, p. 1, doi. 10.1186/1471-2164-13-S6-S19
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- Article
Characterization of single-nucleotide variation in Indian-origin rhesus macaques (Macaca mulatta).
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- BMC Genomics, 2011, v. 12, n. 1, p. 311, doi. 10.1186/1471-2164-12-311
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- Article
Next-Generation Sequencing.
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- Journal of Biomedicine & Biotechnology, 2010, p. 1, doi. 10.1155/2010/370710
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- Article