ERIC BOERWINKLE to High-Throughput Nucleotide Sequencing
This is a "connection" page, showing publications ERIC BOERWINKLE has written about High-Throughput Nucleotide Sequencing.
Connection Strength
2.123
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Whole genome sequence analysis of serum amino acid levels. Genome Biol. 2016 11 24; 17(1):237.
Score: 0.379
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Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. BMC Bioinformatics. 2014 Jan 29; 15:30.
Score: 0.312
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Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Res Notes. 2024 Mar 03; 17(1):62.
Score: 0.157
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muCNV: Genotyping Structural Variants for Population-level Sequencing. Bioinformatics. 2021 08 04; 37(14):2055?2057.
Score: 0.128
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Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data. Hum Genet. 2019 Feb; 138(2):199-210.
Score: 0.110
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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 02 28; 45(4):1633-1648.
Score: 0.097
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A hybrid computational strategy to address WGS variant analysis in >5000 samples. BMC Bioinformatics. 2016 Sep 10; 17(1):361.
Score: 0.094
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Loss-of-function variants influence the human serum metabolome. Sci Adv. 2016 08; 2(8):e1600800.
Score: 0.093
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Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis. Genet Epidemiol. 2016 09; 40(6):486-91.
Score: 0.092
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Rare variants analysis using penalization methods for whole genome sequence data. BMC Bioinformatics. 2015 Dec 04; 16:405.
Score: 0.089
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Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.089
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Pathway analysis with next-generation sequencing data. Eur J Hum Genet. 2015 Apr; 23(4):507-15.
Score: 0.080
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Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012 Jul 06; 337(6090):64-9.
Score: 0.069
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xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. Gigascience. 2022 12 28; 12.
Score: 0.036
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Targeted Genome Sequencing Identifies Multiple Rare Variants in?Caveolin-1 Associated with Obstructive Sleep Apnea. Am J Respir Crit Care Med. 2022 11 15; 206(10):1271-1280.
Score: 0.036
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Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 12 21; 9(12).
Score: 0.031
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Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing. PLoS One. 2019; 14(6):e0218115.
Score: 0.028
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Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
Score: 0.028
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On Robust Association Testing for Quantitative Traits and Rare Variants. G3 (Bethesda). 2016 12 07; 6(12):3941-3950.
Score: 0.024
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
Score: 0.024
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Whole Exome Sequencing in Atrial Fibrillation. PLoS Genet. 2016 09; 12(9):e1006284.
Score: 0.023
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Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 07 19; 9(1):42.
Score: 0.023
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.023
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PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics. 2015 Mar 19; 16:214.
Score: 0.021
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Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project. Blood. 2013 Jul 25; 122(4):590-7.
Score: 0.019
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The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A. 2012 Jul; 158A(7):1523-5.
Score: 0.017