Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Raghavendra Padmanabhan"'
Autor:
Xiaolin Zhu, Raghavendra Padmanabhan, Brett Copeland, Joshua Bridgers, Zhong Ren, Sitharthan Kamalakaran, Ailbhe O'Driscoll-Collins, Samuel F Berkovic, Ingrid E Scheffer, Annapurna Poduri, Davide Mei, Renzo Guerrini, Daniel H Lowenstein, Andrew S Allen, Erin L Heinzen, David B Goldstein
Publikováno v:
PLoS Genetics, Vol 13, Iss 11, p e1007104 (2017)
Trio exome sequencing has been successful in identifying genes with de novo mutations (DNMs) causing epileptic encephalopathy (EE) and other neurodevelopmental disorders. Here, we evaluate how well a case-control collapsing analysis recovers genes ca
Externí odkaz:
https://doaj.org/article/8e9360c193ab42e2a28283275adfbd6b
Autor:
Edward E Large, Raghavendra Padmanabhan, Kathie L Watkins, Richard F Campbell, Wen Xu, Patrick T McGrath
Publikováno v:
PLoS Genetics, Vol 13, Iss 5, p e1006769 (2017)
Most biological traits and common diseases have a strong but complex genetic basis, controlled by large numbers of genetic variants with small contributions to a trait or disease risk. The effect-size of most genetic variants is not absolute and is i
Externí odkaz:
https://doaj.org/article/d6b5c8bc8d9a4939a1c1a1b1fd5b9ae6
In QIAseq targeted DNA panels, synthetic primers (short single-strand DNA sequences) are used for target enrichment via complementary DNA binding. Off-target priming could occur in this process when a primer binds to some loci where the DNA sequences
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::19e38a923148ee3bab36d0dd7853cfd2
https://doi.org/10.1101/2020.07.13.201558
https://doi.org/10.1101/2020.07.13.201558
Autor:
Xiujing Gu, Song Tian, Young Woo Kim, George J. Quellhorst, Scott F. Winter, Jixin Deng, Frank Reinecke, Eric Lader, Raghavendra Padmanabhan, Dan Heard, Raed Samara, James Keller, John DiCarlo, Hong Xu, Mohammad R. Nezami Ranjbar
Publikováno v:
Cancer Research. 80:753-753
With the adoption of NGS as a powerful tool for molecular biology research, researchers seek to efficiently utilize genetic variation information for cancer identification which otherwise would be difficult with traditional method. For example, targe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::362ebb622f76aac7ed412b9eb6191284
https://doi.org/10.1158/1538-7445.am2020-753
https://doi.org/10.1158/1538-7445.am2020-753
Publikováno v:
Bioinformatics
Motivation Low-frequency DNA mutations are often confounded with technical artifacts from sample preparation and sequencing. With unique molecular identifiers (UMIs), most of the sequencing errors can be corrected. However, errors before UMI tagging,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b0c33e242ac061add1bad3cb3d67024
https://doi.org/10.1101/281659
https://doi.org/10.1101/281659
Autor:
Davide Mei, Andrew S. Allen, Zhong Ren, Renzo Guerrini, Joshua Bridgers, Ailbhe O’Driscoll-Collins, Annapurna Poduri, Ingrid E. Scheffer, David Goldstein, Samuel F. Berkovic, Raghavendra Padmanabhan, Brett Copeland, Xiaolin Zhu, Daniel H. Lowenstein, Sitharthan Kamalakaran, Erin L. Heinzen
Publikováno v:
PLoS genetics, vol 13, iss 11
PLoS Genetics, Vol 13, Iss 11, p e1007104 (2017)
PLoS Genetics
PLoS Genetics, Vol 13, Iss 11, p e1007104 (2017)
PLoS Genetics
Trio exome sequencing has been successful in identifying genes with de novo mutations (DNMs) causing epileptic encephalopathy (EE) and other neurodevelopmental disorders. Here, we evaluate how well a case-control collapsing analysis recovers genes ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a18c00b034bde87274f2c34eba11327
https://escholarship.org/uc/item/6z0138d4
https://escholarship.org/uc/item/6z0138d4
Autor:
Sitharthan Kamalakaran, Russell K. Brynes, Keegan Barry-Holson, Imran Siddiqi, Lizalynn M. Dias, Kevin R. Kelly, Charles Ma, Irene Kang, Venkata Thodima, Jane Houldsworth, Julia Friedman, Raghavendra Padmanabhan
Publikováno v:
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 29(6)
A predominantly diffuse growth pattern and CD23 co-expression are uncommon findings in nodal follicular lymphoma and can create diagnostic challenges. A single case series in 2009 (Katzenberger et al) proposed a unique morphologic variant of nodal fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12f16514409385ff26f71748e5e9f97a
https://pubmed.ncbi.nlm.nih.gov/26965583
https://pubmed.ncbi.nlm.nih.gov/26965583
Autor:
Raghavendra Padmanabhan, Richard F. Campbell, Kathie L. Watkins, Wen Xu, Patrick T. McGrath, Edward E. Large
Publikováno v:
PLoS Genetics, Vol 13, Iss 5, p e1006769 (2017)
PLoS Genetics
PLoS Genetics
Most biological traits and common diseases have a strong but complex genetic basis, controlled by large numbers of genetic variants with small contributions to a trait or disease risk. The effect-size of most genetic variants is not absolute and is i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9bf641d7dc1220df6bf6b994e2d2cfc
https://doi.org/10.1371/journal.pgen.1006769
https://doi.org/10.1371/journal.pgen.1006769
Autor:
Raju S.K. Chaganti, Rekha Soni, Sitharthan Kamalakaran, Venkata Thodima, Banumathy Gowrishankar, Jonathan A. Coleman, Massimiliano Spaliviero, Kelly Lynn Stratton, Manickam Janakiraman, Jane Houldsworth, Stephen B. Solomon, Jeremy C. Durack, Raghavendra Padmanabhan
Publikováno v:
Journal of Clinical Oncology. 34:528-528
528 Background: Image-guided core-needle biopsies are increasingly being utilized to assist in the management of patients with renal masses, where only limited material is available for analysis. In this study, the performance of a custom next-genera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1722442e7928bc0ba7e0752b6f8ce78d
https://doi.org/10.1200/jco.2016.34.2_suppl.528
https://doi.org/10.1200/jco.2016.34.2_suppl.528
Autor:
Raghavendra Padmanabhan, Sitharthan Kamalakaran, Imran Siddiqi, Jane Houldsworth, Charles Ma, Venkata Thodima, Asha Guttapalli, Julia Friedman
Publikováno v:
Blood. 126:1470-1470
Background: Recent advancements in comprehensive sequencing technologies has enabled researchers to uncover numerous somatic variants within many disease types, but their respective contributions to disease pathogenesis and potential roles as outcome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::774eb6bcc3acec886f2212ec2c0d738e
https://doi.org/10.1182/blood.v126.23.1470.1470
https://doi.org/10.1182/blood.v126.23.1470.1470