Found: 150
Select item for more details and to access through your institution.
Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.
- Published in:
- Life Science Alliance, 2021, v. 4, n. 9, p. 1, doi. 10.26508/lsa.202000941
- By:
- Publication type:
- Article
The gut mycobiome of the Human Microbiome Project healthy cohort.
- Published in:
- Microbiome, 2017, v. 5, p. 1, doi. 10.1186/s40168-017-0373-4
- By:
- Publication type:
- Article
The functional spectrum of low-frequency coding variation.
- Published in:
- Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r84
- By:
- Publication type:
- Article
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities.
- Published in:
- Genome Biology, 2011, v. 12, n. 7, p. 1, doi. 10.1186/gb-2011-12-7-r68
- By:
- Publication type:
- Article
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
- Published in:
- BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0208-3
- By:
- Publication type:
- Article
PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1370-2
- By:
- Publication type:
- Article
The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1333-7
- By:
- Publication type:
- Article
Characterization of single-nucleotide variation in Indian-origin rhesus macaques (Macaca mulatta).
- Published in:
- BMC Genomics, 2011, v. 12, n. 1, p. 311, doi. 10.1186/1471-2164-12-311
- By:
- Publication type:
- Article
Evolutionary History of Chemosensory-Related Gene Families across the Arthropoda.
- Published in:
- Molecular Biology & Evolution, 2017, v. 34, n. 8, p. 1838, doi. 10.1093/molbev/msx147
- By:
- Publication type:
- Article
The DNA sequence, annotation and analysis of human chromosome 3.
- Published in:
- 2006
- By:
- Publication type:
- Letter
The finished DNA sequence of human chromosome 12.
- Published in:
- Nature, 2006, v. 440, n. 7082, p. 346, doi. 10.1038/nature04569
- By:
- Publication type:
- Article
The DNA sequence of the human X chromosome.
- Published in:
- Nature, 2005, v. 434, n. 7031, p. 325, doi. 10.1038/nature03440
- By:
- Publication type:
- Article
Genome sequence of the Brown Norway rat yields insights into mammalian evolution.
- Published in:
- Nature, 2004, v. 428, n. 6982, p. 493, doi. 10.1038/nature02426
- By:
- Publication type:
- Article
Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group.
- Published in:
- JAMA Network Open, 2024, v. 7, n. 3, p. e244170, doi. 10.1001/jamanetworkopen.2024.4170
- By:
- Publication type:
- Article
Exome sequencing in children with clinically suspected maturity‐onset diabetes of the young.
- Published in:
- Pediatric Diabetes, 2021, v. 22, n. 7, p. 960, doi. 10.1111/pedi.13257
- By:
- Publication type:
- Article
Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-42202-0
- By:
- Publication type:
- Article
Draft genome sequences and description of Lactobacillus rhamnosus strains L31, L34, and L35.
- Published in:
- Standards in Genomic Sciences, 2014, v. 9, n. 3, p. 744, doi. 10.4056/sigs.5048907
- By:
- Publication type:
- Article
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5774, doi. 10.1093/hmg/ddu291
- By:
- Publication type:
- Article
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4329, doi. 10.1093/hmg/ddt282
- By:
- Publication type:
- Article
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 17, p. 3366, doi. 10.1093/hmg/ddr243
- By:
- Publication type:
- Article
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. 4, p. e18, doi. 10.1093/nar/gkad1223
- By:
- Publication type:
- Article
Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breeds.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02809-1
- By:
- Publication type:
- Article
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
- Published in:
- Nature Communications, 2016, v. 7, n. 2, p. 10713, doi. 10.1038/ncomms10713
- By:
- Publication type:
- Article
Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.
- Published in:
- Nature Communications, 2015, v. 6, n. 3, p. 6604, doi. 10.1038/ncomms7604
- By:
- Publication type:
- Article
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing.
- Published in:
- JAMA: Journal of the American Medical Association, 2014, v. 312, n. 18, p. 1869, doi. 10.1001/jama.2014.14601
- By:
- Publication type:
- Article
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0633-y
- By:
- Publication type:
- Article
Loss of the Polyketide Synthase StlB Results in Stalk Cell Overproduction in Polysphondylium violaceum.
- Published in:
- Genome Biology & Evolution, 2020, v. 12, n. 5, p. 674, doi. 10.1093/gbe/evaa079
- By:
- Publication type:
- Article
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 342, doi. 10.1038/ejhg.2014.107
- By:
- Publication type:
- Article
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1145, doi. 10.1038/ejhg.2013.291
- By:
- Publication type:
- Article
Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals.
- Published in:
- PLoS ONE, 2021, v. 16, n. 8, p. 1, doi. 10.1371/journal.pone.0244468
- By:
- Publication type:
- Article
1550-P: Whole-Exome Sequencing in Children with Suspected Maturity-Onset Diabetes of the Young (MODY).
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-1550-P
- By:
- Publication type:
- Article
Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline.
- Published in:
- BMC Bioinformatics, 2014, v. 15, n. 1, p. 3, doi. 10.1186/1471-2105-15-30
- By:
- Publication type:
- Article
MHC genotyping from rhesus macaque exome sequences.
- Published in:
- Immunogenetics, 2019, v. 71, n. 8/9, p. 531, doi. 10.1007/s00251-019-01125-w
- By:
- Publication type:
- Article
Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques.
- Published in:
- Immunogenetics, 2017, v. 69, n. 5, p. 325, doi. 10.1007/s00251-017-0977-7
- By:
- Publication type:
- Article
Comprehensive molecular characterization of human colon and rectal cancer.
- Published in:
- Nature, 2012, v. 487, n. 7407, p. 330, doi. 10.1038/nature11252
- By:
- Publication type:
- Article
Structure, function and diversity of the healthy human microbiome.
- Published in:
- Nature, 2012, v. 486, n. 7402, p. 207, doi. 10.1038/nature11234
- By:
- Publication type:
- Article
Comparative and demographic analysis of orang-utan genomes.
- Published in:
- Nature, 2011, v. 469, n. 7331, p. 529, doi. 10.1038/nature09687
- By:
- Publication type:
- Article
Complete Khoisan and Bantu genomes from southern Africa.
- Published in:
- Nature, 2010, v. 463, n. 7283, p. 943, doi. 10.1038/nature08795
- By:
- Publication type:
- Article
A burst of segmental duplications in the genome of the African great ape ancestor.
- Published in:
- 2009
- By:
- Publication type:
- Correction notice
Comprehensive genomic characterization defines human glioblastoma genes and core pathways.
- Published in:
- Nature, 2008, v. 455, n. 7216, p. 1061, doi. 10.1038/nature07385
- By:
- Publication type:
- Article
Somatic mutations affect key pathways in lung adenocarcinoma.
- Published in:
- Nature, 2008, v. 455, n. 7216, p. 1069, doi. 10.1038/nature07423
- By:
- Publication type:
- Article
The genome of the model beetle and pest Tribolium castaneum.
- Published in:
- Nature, 2008, v. 452, n. 7190, p. 949, doi. 10.1038/nature06784
- By:
- Publication type:
- Article
Phenotypic expansion in DDX3X – a common cause of intellectual disability in females.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 10, p. 1277, doi. 10.1002/acn3.622
- By:
- Publication type:
- Article
Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.
- Published in:
- Genes, 2020, v. 11, n. 8, p. 853, doi. 10.3390/genes11080853
- By:
- Publication type:
- Article
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01312-9
- By:
- Publication type:
- Article
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01123-w
- By:
- Publication type:
- Article
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01031-z
- By:
- Publication type:
- Article
Whole Genome Sequences of Three Treponema pallidum ssp. pertenue Strains: Yaws and Syphilis Treponemes Differ in Less than 0.2% of the Genome Sequence.
- Published in:
- PLoS Neglected Tropical Diseases, 2012, v. 6, n. 1, p. 1, doi. 10.1371/journal.pntd.0001471
- By:
- Publication type:
- Article
Whole Genome Sequences of Three Treponema pallidum ssp. pertenue Strains: Yaws and Syphilis Treponemes Differ in Less than 0.2% of the Genome Sequence.
- Published in:
- PLoS Neglected Tropical Diseases, 2012, v. 6, n. 1, p. 1, doi. 10.1371/journal.pntd.0001471
- By:
- Publication type:
- Article
Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 640, doi. 10.1038/ng.3270
- By:
- Publication type:
- Article