DONNA MUZNY to Sequence Analysis, DNA
This is a "connection" page, showing publications DONNA MUZNY has written about Sequence Analysis, DNA.
Connection Strength
3.872
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Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals. PLoS One. 2021; 16(8):e0244468.
Score: 0.116
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Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant. Life Sci Alliance. 2021 09; 4(9).
Score: 0.116
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Sequence analysis in Bos taurus reveals pervasiveness of X-Y arms races in mammalian lineages. Genome Res. 2020 12; 30(12):1716-1726.
Score: 0.110
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Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.100
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Using BODIPY dye-primer chemistry in large-scale sequencing. IEEE Eng Med Biol Mag. 1998 Nov-Dec; 17(6):88-93.
Score: 0.096
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Novel CYP2A6 diplotypes identified through next-generation sequencing are associated with in-vitro and in-vivo nicotine metabolism. Pharmacogenet Genomics. 2018 Jan; 28(1):7-16.
Score: 0.090
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Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med. 2018 08; 20(8):855-866.
Score: 0.090
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SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads. BMC Genomics. 2017 Oct 03; 18(Suppl 6):691.
Score: 0.089
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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: 0.086
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.086
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Genome of the Asian longhorned beetle (Anoplophora glabripennis), a globally significant invasive species, reveals key functional and evolutionary innovations at the beetle-plant interface. Genome Biol. 2016 11 11; 17(1):227.
Score: 0.083
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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: 0.082
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Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. Hum Mutat. 2016 08; 37(8):804-11.
Score: 0.081
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POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.
Score: 0.079
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Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 Jan; 73(1):68-75.
Score: 0.079
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Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 Apr 11; 16:286.
Score: 0.075
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.073
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Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia. PLoS One. 2014; 9(10):e110740.
Score: 0.072
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11.
Score: 0.067
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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: 0.066
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Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology. PLoS One. 2012; 7(11):e47768.
Score: 0.063
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Whole genome sequence of Treponema pallidum ssp. pallidum, strain Mexico A, suggests recombination between yaws and syphilis strains. PLoS Negl Trop Dis. 2012; 6(9):e1832.
Score: 0.063
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Complete genome sequence of Enterococcus faecium strain TX16 and comparative genomic analysis of Enterococcus faecium genomes. BMC Microbiol. 2012 Jul 07; 12:135.
Score: 0.062
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Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes. BMC Med Genomics. 2012 Feb 21; 5:7.
Score: 0.060
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Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. Proc Natl Acad Sci U S A. 2011 Nov 15; 108(46):E1128-36.
Score: 0.059
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The functional spectrum of low-frequency coding variation. Genome Biol. 2011 Sep 14; 12(9):R84.
Score: 0.058
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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: 0.058
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Whole-genome sequencing for optimized patient management. Sci Transl Med. 2011 Jun 15; 3(87):87re3.
Score: 0.057
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Whole exome capture in solution with 3 Gbp of data. Genome Biol. 2010; 11(6):R62.
Score: 0.054
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A catalog of reference genomes from the human microbiome. Science. 2010 May 21; 328(5981):994-9.
Score: 0.053
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Genomics. Genome project standards in a new era of sequencing. Science. 2009 Oct 09; 326(5950):236-7.
Score: 0.051
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The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 Apr 17; 452(7189):872-6.
Score: 0.046
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The genome of the sea urchin Strongylocentrotus purpuratus. Science. 2006 Nov 10; 314(5801):941-52.
Score: 0.042
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The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27; 440(7088):1194-8.
Score: 0.040
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The DNA sequence of the human X chromosome. Nature. 2005 Mar 17; 434(7031):325-37.
Score: 0.037
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Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution. Genome Res. 2005 Jan; 15(1):1-18.
Score: 0.037
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Complete genome sequence of Rickettsia typhi and comparison with sequences of other rickettsiae. J Bacteriol. 2004 Sep; 186(17):5842-55.
Score: 0.036
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Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence. Genome Biol. 2002; 3(12):RESEARCH0079.
Score: 0.032
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Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26):16899-903.
Score: 0.032
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Glass bead purification of plasmid template DNA for high throughput sequencing of mammalian genomes. Nucleic Acids Res. 2002 Apr 01; 30(7):e32.
Score: 0.030
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Initial sequencing and analysis of the human genome. Nature. 2001 Feb 15; 409(6822):860-921.
Score: 0.028
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Primate phylogenomics uncovers multiple rapid radiations and ancient interspecific introgression. PLoS Biol. 2020 12; 18(12):e3000954.
Score: 0.028
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The genome sequence of Drosophila melanogaster. Science. 2000 Mar 24; 287(5461):2185-95.
Score: 0.026
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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: 0.025
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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
Score: 0.024
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Analysis of the quality and utility of random shotgun sequencing at low redundancies. Genome Res. 1998 Oct; 8(10):1074-84.
Score: 0.024
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Challenges of Francisella classification exemplified by an atypical clinical isolate. Diagn Microbiol Infect Dis. 2018 Apr; 90(4):241-247.
Score: 0.022
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The gut mycobiome of the Human Microbiome Project healthy cohort. Microbiome. 2017 Nov 25; 5(1):153.
Score: 0.022
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Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus). BMC Biol. 2017 Nov 16; 15(1):110.
Score: 0.022
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Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. Eur J Hum Genet. 2017 11; 25(11):1246-1252.
Score: 0.022
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Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains. Genome Res. 1997 Apr; 7(4):315-29.
Score: 0.021
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Large-scale concatenation cDNA sequencing. Genome Res. 1997 Apr; 7(4):353-8.
Score: 0.021
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Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques. Immunogenetics. 2017 05; 69(5):325-339.
Score: 0.021
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Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. Genome Res. 1997 Mar; 7(3):268-80.
Score: 0.021
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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: 0.021
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Multifaceted biological insights from a draft genome sequence of the tobacco hornworm moth, Manduca sexta. Insect Biochem Mol Biol. 2016 09; 76:118-147.
Score: 0.021
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Method for 96-well M13 DNA template preparations for large-scale sequencing. Biotechniques. 1996 Jun; 20(6):1022-7.
Score: 0.020
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DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 03; 98(3):553-561.
Score: 0.020
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Unique features of a global human ectoparasite identified through sequencing of the bed bug genome. Nat Commun. 2016 Feb 02; 7:10165.
Score: 0.020
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An integrated map of structural variation in 2,504 human genomes. Nature. 2015 Oct 01; 526(7571):75-81.
Score: 0.019
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Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2015 Aug; 8(4):544-52.
Score: 0.019
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The genomes of two key bumblebee species with primitive eusocial organization. Genome Biol. 2015 Apr 24; 16:76.
Score: 0.019
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DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 Apr 02; 96(4):612-22.
Score: 0.019
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Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Mol Psychiatry. 2015 Feb; 20(2):176-82.
Score: 0.018
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Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. Sci Rep. 2015 Feb 05; 5:8278.
Score: 0.018
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A massive expansion of effector genes underlies gall-formation in the wheat pest Mayetiola destructor. Curr Biol. 2015 Mar 02; 25(5):613-20.
Score: 0.018
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Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy. Ophthalmic Genet. 2015; 36(3):270-5.
Score: 0.018
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Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med. 2014 Nov 27; 371(22):2072-82.
Score: 0.018
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Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83.
Score: 0.018
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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: 0.018
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Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):335-43.
Score: 0.018
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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: 0.018
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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: 0.018
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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: 0.018
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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: 0.018
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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: 0.018
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Adaptor-based uracil DNA glycosylase cloning simplifies shotgun library construction for large-scale sequencing. Anal Biochem. 1994 May 01; 218(2):300-8.
Score: 0.018
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Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes. Leukemia. 2014 Apr; 28(4):935-8.
Score: 0.017
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Neutral genomic regions refine models of recent rapid human population growth. Proc Natl Acad Sci U S A. 2014 Jan 14; 111(2):757-62.
Score: 0.017
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Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 May; 16(5):386-394.
Score: 0.017
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Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). Hum Mol Genet. 2013 Nov 01; 22(21):4329-38.
Score: 0.016
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Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet. 2013 Apr; 9(4):e1003443.
Score: 0.016
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Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence. PLoS Negl Trop Dis. 2012 Jan; 6(1):e1471.
Score: 0.015
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Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing. Nat Genet. 2011 Dec 25; 44(2):165-9.
Score: 0.015
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A high-resolution map of human evolutionary constraint using 29 mammals. Nature. 2011 Oct 12; 478(7370):476-82.
Score: 0.015
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Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011 Dec; 32(12):1450-9.
Score: 0.015
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Genome sequence of an Australian kangaroo, Macropus eugenii, provides insight into the evolution of mammalian reproduction and development. Genome Biol. 2011 Aug 29; 12(8):R81.
Score: 0.015
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Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet A. 2011 Sep; 155A(9):2071-7.
Score: 0.014
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Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science. 2011 Aug 26; 333(6046):1154-7.
Score: 0.014
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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: 0.014
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Characterization of single-nucleotide variation in Indian-origin rhesus macaques (Macaca mulatta). BMC Genomics. 2011 Jun 13; 12:311.
Score: 0.014
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Complete genome sequence of Treponema paraluiscuniculi, strain Cuniculi A: the loss of infectivity to humans is associated with genome decay. PLoS One. 2011; 6(5):e20415.
Score: 0.014
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Genetic diversity in India and the inference of Eurasian population expansion. Genome Biol. 2010; 11(11):R113.
Score: 0.014
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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: 0.013
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Functional and evolutionary insights from the genomes of three parasitoid Nasonia species. Science. 2010 Jan 15; 327(5963):343-8.
Score: 0.013
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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: 0.013
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The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science. 2009 Apr 24; 324(5926):522-8.
Score: 0.012
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A sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genome. Genome Res. 2009 Feb; 19(2):167-77.
Score: 0.012
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The complete genome sequence of Escherichia coli DH10B: insights into the biology of a laboratory workhorse. J Bacteriol. 2008 Apr; 190(7):2597-606.
Score: 0.011
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Direct selection of human genomic loci by microarray hybridization. Nat Methods. 2007 Nov; 4(11):903-5.
Score: 0.011
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Paradoxical DNA repair and peroxide resistance gene conservation in Bacillus pumilus SAFR-032. PLoS One. 2007 Sep 26; 2(9):e928.
Score: 0.011
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Evolutionary and biomedical insights from the rhesus macaque genome. Science. 2007 Apr 13; 316(5822):222-34.
Score: 0.011
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The genome sequence of Mannheimia haemolytica A1: insights into virulence, natural competence, and Pasteurellaceae phylogeny. J Bacteriol. 2006 Oct; 188(20):7257-66.
Score: 0.010
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The finished DNA sequence of human chromosome 12. Nature. 2006 03 16; 440(7082):346-51.
Score: 0.010
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The genome of the social amoeba Dictyostelium discoideum. Nature. 2005 May 05; 435(7038):43-57.
Score: 0.009
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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: 0.009
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Sequence and structure of the extrachromosomal palindrome encoding the ribosomal RNA genes in Dictyostelium. Nucleic Acids Res. 2003 May 01; 31(9):2361-8.
Score: 0.008
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Initial sequencing and comparative analysis of the mouse genome. Nature. 2002 Dec 05; 420(6915):520-62.
Score: 0.008
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Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6. Genome Res. 1998 Jan; 8(1):29-40.
Score: 0.006