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Year Number of Results
1981 1
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1994 1
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1998 2
1999 3
2000 2
2001 4
2002 1
2003 6
2004 16
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2006 10
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2009 16
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887 results

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Page 1
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD, Li AH, Marcketta A, Sun D, Mbatchou J, Kessler MD, Benner C, Liu D, Locke AE, Balasubramanian S, Yadav A, Banerjee N, Gillies CE, Damask A, Liu S, Bai X, Hawes A, Maxwell E, Gurski L, Watanabe K, Kosmicki JA, Rajagopal V, Mighty J; Regeneron Genetics Center; DiscovEHR; Jones M, Mitnaul L, Stahl E, Coppola G, Jorgenson E, Habegger L, Salerno WJ, Shuldiner AR, Lotta LA, Overton JD, Cantor MN, Reid JG, Yancopoulos G, Kang HM, Marchini J, Baras A, Abecasis GR, Ferreira MAR. Backman JD, et al. Nature. 2021 Nov;599(7886):628-634. doi: 10.1038/s41586-021-04103-z. Epub 2021 Oct 18. Nature. 2021. PMID: 34662886 Free PMC article.
Here we used exome sequencing(1) to explore protein-altering variants and their consequences in 454,787 participants in the UK Biobank study(2). We identified 12 million coding variants, including around 1 million loss-of-function and around 1.8 million delet …
Here we used exome sequencing(1) to explore protein-altering variants and their consequences in 454,787 participants in the UK Biobank study …
New and emerging approaches to treat psychiatric disorders.
Scangos KW, State MW, Miller AH, Baker JT, Williams LM. Scangos KW, et al. Nat Med. 2023 Feb;29(2):317-333. doi: 10.1038/s41591-022-02197-0. Epub 2023 Feb 16. Nat Med. 2023. PMID: 36797480 Free PMC article. Review.
Psychiatric disorders are highly prevalent, often devastating diseases that negatively impact the lives of millions of people worldwide. Although their etiological and diagnostic heterogeneity has long challenged drug discovery, an emerging circuit-based understanding of p …
Psychiatric disorders are highly prevalent, often devastating diseases that negatively impact the lives of millions of people worldwi …
ChIP-seq.
Kim TH, Dekker J. Kim TH, et al. Cold Spring Harb Protoc. 2018 May 1;2018(5). doi: 10.1101/pdb.prot082644. Cold Spring Harb Protoc. 2018. PMID: 29717046
Using next-generation sequencing platforms (notably the Illumina Genome Analyzer), millions of short sequence reads can be obtained. The densities of recovered ChIP sequence reads along the genome are used to determine the binding sites of the protein. ...The size-selected …
Using next-generation sequencing platforms (notably the Illumina Genome Analyzer), millions of short sequence reads can be obtained. …
Global, Regional, and National Burden of Rheumatic Heart Disease, 1990-2015.
Watkins DA, Johnson CO, Colquhoun SM, Karthikeyan G, Beaton A, Bukhman G, Forouzanfar MH, Longenecker CT, Mayosi BM, Mensah GA, Nascimento BR, Ribeiro ALP, Sable CA, Steer AC, Naghavi M, Mokdad AH, Murray CJL, Vos T, Carapetis JR, Roth GA. Watkins DA, et al. N Engl J Med. 2017 Aug 24;377(8):713-722. doi: 10.1056/NEJMoa1603693. N Engl J Med. 2017. PMID: 28834488 Free article.
We estimated that in 2015 there were 33.4 million (95% uncertainty interval, 29.7 million to 43.1 million) cases of rheumatic heart disease and 10.5 million (95% uncertainty interval, 9.6 million to 11.5 million) disability-adjusted life- …
We estimated that in 2015 there were 33.4 million (95% uncertainty interval, 29.7 million to 43.1 million) cases of rhe …
Implications of Race Adjustment in Lung-Function Equations.
Diao JA, He Y, Khazanchi R, Nguemeni Tiako MJ, Witonsky JI, Pierson E, Rajpurkar P, Elhawary JR, Melas-Kyriazi L, Yen A, Martin AR, Levy S, Patel CJ, Farhat M, Borrell LN, Cho MH, Silverman EK, Burchard EG, Manrai AK. Diao JA, et al. N Engl J Med. 2024 Jun 13;390(22):2083-2097. doi: 10.1056/NEJMsa2311809. Epub 2024 May 19. N Engl J Med. 2024. PMID: 38767252 Free PMC article.
Evaluated outcomes included national projections of clinical, occupational, and financial reclassifications; individual lung-allocation scores for transplantation priority; and concordance statistics (C statistics) for clinical prediction tasks. RESULTS: Among the 249 million …
Evaluated outcomes included national projections of clinical, occupational, and financial reclassifications; individual lung-allocation scor …
Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation.
Trapnell C, Williams BA, Pertea G, Mortazavi A, Kwan G, van Baren MJ, Salzberg SL, Wold BJ, Pachter L. Trapnell C, et al. Nat Biotechnol. 2010 May;28(5):511-5. doi: 10.1038/nbt.1621. Epub 2010 May 2. Nat Biotechnol. 2010. PMID: 20436464 Free PMC article.
To test Cufflinks, we sequenced and analyzed >430 million paired 75-bp RNA-Seq reads from a mouse myoblast cell line over a differentiation time series. ...
To test Cufflinks, we sequenced and analyzed >430 million paired 75-bp RNA-Seq reads from a mouse myoblast cell line over a differ …
Comprehensive comparative effectiveness and safety of first-line antihypertensive drug classes: a systematic, multinational, large-scale analysis.
Suchard MA, Schuemie MJ, Krumholz HM, You SC, Chen R, Pratt N, Reich CG, Duke J, Madigan D, Hripcsak G, Ryan PB. Suchard MA, et al. Lancet. 2019 Nov 16;394(10211):1816-1826. doi: 10.1016/S0140-6736(19)32317-7. Epub 2019 Oct 24. Lancet. 2019. PMID: 31668726 Free PMC article.
METHODS: We developed a comprehensive framework for real-world evidence that enables comparative effectiveness and safety evaluation across many drugs and outcomes from observational data encompassing millions of patients, while minimising inherent bias. Using this framewo …
METHODS: We developed a comprehensive framework for real-world evidence that enables comparative effectiveness and safety evaluation across …
Lung Cancer Screening-Trends and Current Studies.
Czerw A, Deptała A, Partyka O, Pajewska M, Wiśniewska E, Sygit K, Wysocki S, Cipora E, Konieczny M, Banaś T, Małecki K, Grochans E, Grochans S, Cybulska AM, Schneider-Matyka D, Bandurska E, Ciećko W, Drobnik J, Pobrotyn P, Grata-Borkowska U, Furtak-Pobrotyn J, Sierocka A, Marczak M, Kozlowski R. Czerw A, et al. Cancers (Basel). 2024 Jul 29;16(15):2691. doi: 10.3390/cancers16152691. Cancers (Basel). 2024. PMID: 39123419 Free PMC article. Review.
In 2020, lung cancer was responsible for 1.8 million deaths (18%). More than 90% of lung cancer cases and 77.1% of lung cancer deaths occur in countries with high and very high HDI (human development index) values. ...
In 2020, lung cancer was responsible for 1.8 million deaths (18%). More than 90% of lung cancer cases and 77.1% of lung cancer deaths …
Medication-wide association studies.
Ryan PB, Madigan D, Stang PE, Schuemie MJ, Hripcsak G. Ryan PB, et al. CPT Pharmacometrics Syst Pharmacol. 2013 Sep 18;2(9):e76. doi: 10.1038/psp.2013.52. CPT Pharmacometrics Syst Pharmacol. 2013. PMID: 24448022 Free PMC article.
We applied a "medication-wide association study" approach that combined multivariate analysis with exploratory visualization to study four health outcomes of interest in an administrative claims database of 46 million patients and a clinical database of 11 million p …
We applied a "medication-wide association study" approach that combined multivariate analysis with exploratory visualization to study four h …
Recognition of Mycobacterial Lipids by Immune Receptors.
Ishikawa E, Mori D, Yamasaki S. Ishikawa E, et al. Trends Immunol. 2017 Jan;38(1):66-76. doi: 10.1016/j.it.2016.10.009. Epub 2016 Nov 23. Trends Immunol. 2017. PMID: 27889398 Review.
Mycobacterium tuberculosis (Mtb), the causative agent of tuberculosis (TB), infects one-third of the world's population and causes 1.5 million deaths each year. The cell envelopes of mycobacteria comprise a wealth of unique glycolipids, including trehalose-6,6'-dimycolate …
Mycobacterium tuberculosis (Mtb), the causative agent of tuberculosis (TB), infects one-third of the world's population and causes 1.5 mi …
887 results