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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palanda… See abstract for full author list ➔ Brownstein CA, et al. Among authors: veeramachaneni v. Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53. Genome Biol. 2014. PMID: 24667040 Free PMC article.
Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.
Mannan AU, Singh J, Lakshmikeshava R, Thota N, Singh S, Sowmya TS, Mishra A, Sinha A, Deshwal S, Soni MR, Chandrasekar A, Ramesh B, Ramamurthy B, Padhi S, Manek P, Ramalingam R, Kapoor S, Ghosh M, Sankaran S, Ghosh A, Veeramachaneni V, Ramamoorthy P, Hariharan R, Subramanian K. Mannan AU, et al. Among authors: veeramachaneni v. J Hum Genet. 2016 Jun;61(6):515-22. doi: 10.1038/jhg.2016.4. Epub 2016 Feb 25. J Hum Genet. 2016. PMID: 26911350
Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency.
Sosa MX, Sivakumar IK, Maragh S, Veeramachaneni V, Hariharan R, Parulekar M, Fredrikson KM, Harkins TT, Lin J, Feldman AB, Tata P, Ehret GB, Chakravarti A. Sosa MX, et al. Among authors: veeramachaneni v. PLoS Comput Biol. 2012;8(10):e1002737. doi: 10.1371/journal.pcbi.1002737. Epub 2012 Oct 25. PLoS Comput Biol. 2012. PMID: 23133345 Free PMC article.
Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations.
Singh J, Thota N, Singh S, Padhi S, Mohan P, Deshwal S, Sur S, Ghosh M, Agarwal A, Sarin R, Ahmed R, Almel S, Chakraborti B, Raina V, DadiReddy PK, Smruti BK, Rajappa S, Dodagoudar C, Aggarwal S, Singhal M, Joshi A, Kumar R, Kumar A, Mishra DK, Arora N, Karaba A, Sankaran S, Katragadda S, Ghosh A, Veeramachaneni V, Hariharan R, Mannan AU. Singh J, et al. Among authors: veeramachaneni v. Breast Cancer Res Treat. 2018 Jul;170(1):189-196. doi: 10.1007/s10549-018-4726-x. Epub 2018 Feb 22. Breast Cancer Res Treat. 2018. PMID: 29470806
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.
Ganapathy A, Mishra A, Soni MR, Kumar P, Sadagopan M, Kanthi AV, Patric IRP, George S, Sridharan A, Thyagarajan TC, Aswathy SL, Vidya HK, Chinnappa SM, Nayanala S, Prakash MB, Raghavendrachar VG, Parulekar M, Gowda VK, Nampoothiri S, Menon RN, Pachat D, Udani V, Naik N, Kamate M, Devi ARR, Mohammed Kunju PA, Nair M, Hegde AU, Kumar MP, Sundaram S, Tilak P, Puri RD, Shah K, Sheth J, Hasan Q, Sheth F, Agrawal P, Katragadda S, Veeramachaneni V, Chandru V, Hariharan R, Mannan AU. Ganapathy A, et al. Among authors: veeramachaneni v. J Neurol. 2019 Aug;266(8):1919-1926. doi: 10.1007/s00415-019-09358-1. Epub 2019 May 8. J Neurol. 2019. PMID: 31069529
StrandAdvantage test for early-line and advanced-stage treatment decisions in solid tumors.
Sen M, Katragadda S, Ravichandran A, Deshpande G, Parulekar M, Nayanala S, Vittal V, Shen W, Phooi Nee Yong M, Jacob J, Parchuru S, Dhanuskodi K, Eyring K, Agrawal P, Agarwal S, Shanmugam A, Gupta S, Vishwanath D, Kumari K, Hariharan AK, Balaji SA, Liang Q, Robolledo B, Gauribidanur Raghavendrachar V, Oomer Farooque M, Buresh CJ, Ramamoorthy P, Bahadur U, Subramanian K, Hariharan R, Veeramachaneni V, Sankaran S, Gupta V. Sen M, et al. Among authors: veeramachaneni v. Cancer Med. 2017 May;6(5):883-901. doi: 10.1002/cam4.1037. Epub 2017 Apr 3. Cancer Med. 2017. PMID: 28371134 Free PMC article.
Analysis of solid tumor mutation profiles in liquid biopsy.
Balaji SA, Shanmugam A, Chougule A, Sridharan S, Prabhash K, Arya A, Chaubey A, Hariharan A, Kolekar P, Sen M, Ravichandran A, Katragadda S, Sankaran S, Bhargava S, Kulkarni P, Rao S, Sunkavalli C, Banavali S, Joshi A, Noronha V, Dutt A, Bahadur U, Hariharan R, Veeramachaneni V, Gupta V. Balaji SA, et al. Among authors: veeramachaneni v. Cancer Med. 2018 Nov;7(11):5439-5447. doi: 10.1002/cam4.1791. Epub 2018 Sep 27. Cancer Med. 2018. PMID: 30264478 Free PMC article.
21 results