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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2008 1
2010 4
2011 4
2012 18
2013 42
2014 52
2015 62
2016 70
2017 87
2018 81
2019 95
2020 147
2021 168
2022 172
2023 164
2024 50

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9 results

Results by year

Filters applied: from 1000/1/1 - 1980. Clear all
Page 1
SNVMix: predicting single nucleotide variants from next-generation sequencing of tumors.
Goya R, Sun MG, Morin RD, Leung G, Ha G, Wiegand KC, Senz J, Crisan A, Marra MA, Hirst M, Huntsman D, Murphy KP, Aparicio S, Shah SP. Goya R, et al. Bioinformatics. 2010 Mar 15;26(6):730-6. doi: 10.1093/bioinformatics/btq040. Epub 2010 Feb 3. Bioinformatics. 2010. PMID: 20130035 Free PMC article.
MOTIVATION: Next-generation sequencing (NGS) has enabled whole genome and transcriptome single nucleotide variant (SNV) discovery in cancer. NGS produces millions of short sequence reads that, once aligned to a reference genome sequence, can be interpr …
MOTIVATION: Next-generation sequencing (NGS) has enabled whole genome and transcriptome single nucleotide variant (S …
A flexible approach for highly multiplexed candidate gene targeted resequencing.
Natsoulis G, Bell JM, Xu H, Buenrostro JD, Ordonez H, Grimes S, Newburger D, Jensen M, Zahn JM, Zhang N, Ji HP. Natsoulis G, et al. PLoS One. 2011;6(6):e21088. doi: 10.1371/journal.pone.0021088. Epub 2011 Jun 30. PLoS One. 2011. PMID: 21738606 Free PMC article.
We describe all the steps from the initial capture assay to single nucleotide variant (SNV) discovery. The capture methodology uses in-solution 80-mer oligonucleotides. ...
We describe all the steps from the initial capture assay to single nucleotide variant (SNV) discovery. The captu …
Microindel detection in short-read sequence data.
Krawitz P, Rödelsperger C, Jäger M, Jostins L, Bauer S, Robinson PN. Krawitz P, et al. Bioinformatics. 2010 Mar 15;26(6):722-9. doi: 10.1093/bioinformatics/btq027. Epub 2010 Feb 9. Bioinformatics. 2010. PMID: 20144947
MOTIVATION: Several recent studies have demonstrated the effectiveness of resequencing and single nucleotide variant (SNV) detection by deep short-read sequencing platforms. While several reliable algorithms are available for automated SNV detec …
MOTIVATION: Several recent studies have demonstrated the effectiveness of resequencing and single nucleotide variant ( …
Do we need to search for gr/gr deletions in infertile men in a clinical setting?
Stouffs K, Tournaye H, Van der Elst J, Haentjens P, Liebaers I, Lissens W. Stouffs K, et al. Hum Reprod. 2008 May;23(5):1193-9. doi: 10.1093/humrep/den069. Epub 2008 Mar 7. Hum Reprod. 2008. PMID: 18326516
METHODS: gr/gr deletions were analyzed by using markers sY1291, sY1191 and sY1197 and by investigating the presence of single nucleotide variants (SNV) in DAZ and CDY1 genes in patients with azoospermia (n = 44), cryptozoospermia (n = 51) or severe oli …
METHODS: gr/gr deletions were analyzed by using markers sY1291, sY1191 and sY1197 and by investigating the presence of single nucl …
DAZ gene copies: evidence of Y chromosome evolution.
Fernandes AT, Fernandes S, Gonçalves R, Sá R, Costa P, Rosa A, Ferrás C, Sousa M, Brehm A, Barros A. Fernandes AT, et al. Mol Hum Reprod. 2006 Aug;12(8):519-23. doi: 10.1093/molehr/gal051. Epub 2006 Jun 15. Mol Hum Reprod. 2006. PMID: 16777954
The Y single-nucleotide polymorphisms (Y-SNPs) with low mutation rates are currently well characterized and permit the construction of a unique phylogeny of haplogroups. DAZ haplotypes were defined using single-nucleotide variant (SNV)/sequence tagged- …
The Y single-nucleotide polymorphisms (Y-SNPs) with low mutation rates are currently well characterized and permit the construction of a uni …
Feature-based classifiers for somatic mutation detection in tumour-normal paired sequencing data.
Ding J, Bashashati A, Roth A, Oloumi A, Tse K, Zeng T, Haffari G, Hirst M, Marra MA, Condon A, Aparicio S, Shah SP. Ding J, et al. Bioinformatics. 2012 Jan 15;28(2):167-75. doi: 10.1093/bioinformatics/btr629. Epub 2011 Nov 13. Bioinformatics. 2012. PMID: 22084253 Free PMC article.
MOTIVATION: The study of cancer genomes now routinely involves using next-generation sequencing technology (NGS) to profile tumours for single nucleotide variant (SNV) somatic mutations. However, surprisingly few published bioinformatics methods exist …
MOTIVATION: The study of cancer genomes now routinely involves using next-generation sequencing technology (NGS) to profile tumours for s …
Genetic and structural variation in the gastric cancer kinome revealed through targeted deep sequencing.
Zang ZJ, Ong CK, Cutcutache I, Yu W, Zhang SL, Huang D, Ler LD, Dykema K, Gan A, Tao J, Lim S, Liu Y, Futreal PA, Grabsch H, Furge KA, Goh LK, Rozen S, Teh BT, Tan P. Zang ZJ, et al. Cancer Res. 2011 Jan 1;71(1):29-39. doi: 10.1158/0008-5472.CAN-10-1749. Epub 2010 Nov 19. Cancer Res. 2011. PMID: 21097718 Free PMC article.
To explore the landscape of kinase genetic variation in gastric cancer (GC), we used targeted, paired-end deep sequencing to analyze 532 protein and phosphoinositide kinases in 14 GC cell lines. We identified 10,604 single-nucleotide variants (SNV) in …
To explore the landscape of kinase genetic variation in gastric cancer (GC), we used targeted, paired-end deep sequencing to analyze 532 pro …
Genetic integrity of the human Y chromosome exposed to groundwater arsenic.
Ali S, Ali S. Ali S, et al. BMC Med Genomics. 2010 Aug 6;3:35. doi: 10.1186/1755-8794-3-35. BMC Med Genomics. 2010. PMID: 20691057 Free PMC article.
End point PCR was performed for established sequence tagged sites to ascertain the status of recombination events. Single nucleotide variants of candidate genes and amplicons were carried out using appropriate restriction enzymes. ...RESULTS: We studied effec …
End point PCR was performed for established sequence tagged sites to ascertain the status of recombination events. Single nucleoti …
Clinical and bacteriological characteristics of Klebsiella pneumoniae causing liver abscess with less frequently observed multi-locus sequences type, ST163, from Singapore and Missouri, US.
Abate G, Koh TH, Gardner M, Siu LK. Abate G, et al. J Microbiol Immunol Infect. 2012 Feb;45(1):31-6. doi: 10.1016/j.jmii.2011.09.002. Epub 2011 Dec 3. J Microbiol Immunol Infect. 2012. PMID: 22138655 Free article.
RESULTS: Both strains had mucoid colony morphology and were similar in multilocus sequence type (ST-163), drug-susceptibility profile, resistance to phagocytosis and susceptibility to serum killing. Although ST-163 is a single nucleotide variant (SNV) …
RESULTS: Both strains had mucoid colony morphology and were similar in multilocus sequence type (ST-163), drug-susceptibility profile, resis …