RICHARD GIBBS to Polymorphism, Single Nucleotide
This is a "connection" page, showing publications RICHARD GIBBS has written about Polymorphism, Single Nucleotide.
Connection Strength
3.651
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Exome variant discrepancies due to reference-genome differences. Am J Hum Genet. 2021 07 01; 108(7):1239-1250.
Score: 0.399
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Deep resequencing and association analysis of schizophrenia candidate genes. Mol Psychiatry. 2013 Feb; 18(2):138-40.
Score: 0.211
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Resequencing of IRS2 reveals rare variants for obesity but not fasting glucose homeostasis in Hispanic children. Physiol Genomics. 2011 Sep 22; 43(18):1029-37.
Score: 0.201
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Common and rare variants of DAOA in bipolar disorder. Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 05; 150B(7):960-6.
Score: 0.177
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Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay. Genome Res. 2005 Feb; 15(2):269-75.
Score: 0.128
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Validation of Single-Nucleotide Mosaic Variants Through Droplet Digital PCR. Curr Protoc. 2024 May; 4(5):e1041.
Score: 0.122
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Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study. Sci Rep. 2019 04 11; 9(1):5941.
Score: 0.086
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Common Coding Variants in SCN10A Are Associated With the Nav1.8 Late Current and Cardiac Conduction. Circ Genom Precis Med. 2018 05; 11(5):e001663.
Score: 0.080
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Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet. 2018 08; 26(8):1121-1131.
Score: 0.080
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Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study. Genetics. 2018 06; 209(2):607-616.
Score: 0.080
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.074
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Association of the IGF1 gene with fasting insulin levels. Eur J Hum Genet. 2016 08; 24(9):1337-43.
Score: 0.069
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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions. PLoS One. 2015; 10(3):e0121644.
Score: 0.065
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Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Hum Mol Genet. 2015 Apr 15; 24(8):2125-37.
Score: 0.064
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Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study. Heart Rhythm. 2014 Mar; 11(3):452-7.
Score: 0.059
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Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis. J Thromb Haemost. 2013 Jul; 11(7):1228-39.
Score: 0.057
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Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes. J Thromb Haemost. 2013 Feb; 11(2):261-9.
Score: 0.056
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An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data. Genome Res. 2013 May; 23(5):833-42.
Score: 0.056
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Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms. Genome Biol. 2012 Feb 29; 13(2):R15.
Score: 0.052
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Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol. 2011 Jul 25; 12(7):R68.
Score: 0.050
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Association between somatostatin receptor 5 gene polymorphisms and pancreatic cancer risk and survival. Cancer. 2011 Jul 01; 117(13):2863-72.
Score: 0.048
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Whole exome capture in solution with 3 Gbp of data. Genome Biol. 2010; 11(6):R62.
Score: 0.047
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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 Apr 01; 362(13):1181-91.
Score: 0.046
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Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children. Am J Clin Nutr. 2010 Jan; 91(1):191-9.
Score: 0.045
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Direct selection of human genomic loci by microarray hybridization. Nat Methods. 2007 Nov; 4(11):903-5.
Score: 0.039
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Genetics. No longer de-identified. Science. 2006 Apr 21; 312(5772):370-1.
Score: 0.035
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SNPdetector: a software tool for sensitive and accurate SNP detection. PLoS Comput Biol. 2005 Oct; 1(5):e53.
Score: 0.034
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Single nucleotide polymorphisms in genes for 2'-5'-oligoadenylate synthetase and RNase L inpatients hospitalized with West Nile virus infection. J Infect Dis. 2005 Nov 15; 192(10):1741-8.
Score: 0.034
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Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet. 2005 Sep; 1(3):e41.
Score: 0.034
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Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. BMC Med Genomics. 2024 10 24; 17(1):255.
Score: 0.031
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Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies. Am J Hum Genet. 2024 Oct 03; 111(10):2129-2138.
Score: 0.031
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Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium. Hum Mol Genet. 2024 08 06; 33(16):1429-1441.
Score: 0.031
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Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders. BMC Med Genomics. 2024 04 16; 17(1):85.
Score: 0.030
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Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature. 2004 04 01; 428(6982):493-521.
Score: 0.030
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Genome-wide linkage disequilibrium and haplotype maps. Am J Pharmacogenomics. 2004; 4(4):253-62.
Score: 0.030
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Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study. Am J Hum Genet. 2023 10 05; 110(10):1704-1717.
Score: 0.029
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Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series. Am J Hum Genet. 2003 May; 72(5):1131-40.
Score: 0.028
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xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. Gigascience. 2022 12 28; 12.
Score: 0.028
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Whole-exome sequencing of 14?389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors. Hum Mol Genet. 2022 09 10; 31(18):3120-3132.
Score: 0.027
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Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Am J Hum Genet. 2022 01 06; 109(1):81-96.
Score: 0.026
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Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 04 12; 12(1):2182.
Score: 0.025
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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021 Feb; 590(7845):290-299.
Score: 0.024
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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25.
Score: 0.021
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Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample. Hum Mol Genet. 2019 04 01; 28(7):1212-1224.
Score: 0.021
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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
Score: 0.021
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MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques. Proc Natl Acad Sci U S A. 2018 03 13; 115(11):2806-2811.
Score: 0.020
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Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study. Hum Mol Genet. 2017 09 01; 26(17):3442-3450.
Score: 0.019
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Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring). 2017 07; 25(7):1270-1276.
Score: 0.019
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Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. Am J Hum Genet. 2017 02 02; 100(2):205-215.
Score: 0.018
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Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study. Hum Mol Genet. 2016 12 01; 25(23):5234-5243.
Score: 0.018
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Whole genome sequence analysis of serum amino acid levels. Genome Biol. 2016 11 24; 17(1):237.
Score: 0.018
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The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences. Genome Res. 2016 12; 26(12):1651-1662.
Score: 0.018
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Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 04; 19(4):412-420.
Score: 0.018
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Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 06; 99(4):831-845.
Score: 0.018
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Whole Exome Sequencing in Atrial Fibrillation. PLoS Genet. 2016 09; 12(9):e1006284.
Score: 0.018
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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: 0.018
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Two male sibs with severe micrognathia and a missense variant in MED12. Eur J Med Genet. 2016 Aug; 59(8):367-72.
Score: 0.018
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Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med. 2017 01; 19(1):13-19.
Score: 0.018
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An integrated map of structural variation in 2,504 human genomes. Nature. 2015 Oct 01; 526(7571):75-81.
Score: 0.017
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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016 05; 18(5):443-51.
Score: 0.017
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Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease. Nat Genet. 2015 Jun; 47(6):640-2.
Score: 0.016
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The genomes of two key bumblebee species with primitive eusocial organization. Genome Biol. 2015 Apr 24; 16:76.
Score: 0.016
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Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun. 2015 Jan 29; 6:5897.
Score: 0.016
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Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing. Genet Med. 2015 Oct; 17(10):831-5.
Score: 0.016
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Association of exome sequences with plasma C-reactive protein levels in >9000 participants. Hum Mol Genet. 2015 Jan 15; 24(2):559-71.
Score: 0.016
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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015 Mar; 23(3):342-6.
Score: 0.015
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Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium. PLoS One. 2014; 9(6):e99798.
Score: 0.015
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Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):344-9.
Score: 0.015
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ADAM19 and HTR4 variants and pulmonary function: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):350-8.
Score: 0.015
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Sequencing of 2 subclinical atherosclerosis candidate regions in 3669 individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):359-64.
Score: 0.015
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Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Circ Cardiovasc Genet. 2014 Jun; 7(3):365-73.
Score: 0.015
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Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):374-382.
Score: 0.015
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Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines. Genome Res. 2014 Jul; 24(7):1193-208.
Score: 0.015
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Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec; 70(12):1491-8.
Score: 0.015
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Integrative annotation of variants from 1092 humans: application to cancer genomics. Science. 2013 Oct 04; 342(6154):1235587.
Score: 0.015
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Combined sequence-based and genetic mapping analysis of complex traits in outbred rats. Nat Genet. 2013 Jul; 45(7):767-75.
Score: 0.014
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Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. PLoS One. 2012; 7(12):e51954.
Score: 0.014
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CRHR1 genotypes, neural circuits and the diathesis for anxiety and depression. Mol Psychiatry. 2013 Jun; 18(6):700-7.
Score: 0.014
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Epistasis dominates the genetic architecture of Drosophila quantitative traits. Proc Natl Acad Sci U S A. 2012 Sep 25; 109(39):15553-9.
Score: 0.014
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Using whole-genome sequence data to predict quantitative trait phenotypes in Drosophila melanogaster. PLoS Genet. 2012; 8(5):e1002685.
Score: 0.013
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An integrative variant analysis suite for whole exome next-generation sequencing data. BMC Bioinformatics. 2012 Jan 12; 13:8.
Score: 0.013
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Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011; 17:3529-40.
Score: 0.013
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Genetic diversity in India and the inference of Eurasian population expansion. Genome Biol. 2010; 11(11):R113.
Score: 0.012
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A map of human genome variation from population-scale sequencing. Nature. 2010 Oct 28; 467(7319):1061-73.
Score: 0.012
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Complete Khoisan and Bantu genomes from southern Africa. Nature. 2010 Feb 18; 463(7283):943-7.
Score: 0.011
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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet. 2009 Jun; 41(6):739-45.
Score: 0.011
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Low frequency of MLL3 mutations in colorectal carcinoma. Cancer Genet Cytogenet. 2009 Mar; 189(2):140-1.
Score: 0.011
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What everybody should know about the rat genome and its online resources. Nat Genet. 2008 May; 40(5):523-7.
Score: 0.010
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The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 Apr 17; 452(7189):872-6.
Score: 0.010
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Characterizing the cancer genome in lung adenocarcinoma. Nature. 2007 Dec 06; 450(7171):893-8.
Score: 0.010
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The DNA sequence of the human X chromosome. Nature. 2005 Mar 17; 434(7031):325-37.
Score: 0.008