Literature DB >> 24526710

BIMA V3: an aligner customized for mate pair library sequencing.

Travis M Drucker1, Sarah H Johnson1, Stephen J Murphy1, Kendall W Cradic1, Terry M Therneau1, George Vasmatzis1.   

Abstract

Mate pair library sequencing is an effective and economical method for detecting genomic structural variants and chromosomal abnormalities. Unfortunately, the mapping and alignment of mate-pair read pairs to a reference genome is a challenging and time-consuming process for most next-generation sequencing alignment programs. Large insert sizes, introduction of library preparation protocol artifacts (biotin junction reads, paired-end read contamination, chimeras, etc.) and presence of structural variant breakpoints within reads increase mapping and alignment complexity. We describe an algorithm that is up to 20 times faster and 25% more accurate than popular next-generation sequencing alignment programs when processing mate pair sequencing.
© The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

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Year:  2014        PMID: 24526710     DOI: 10.1093/bioinformatics/btu078

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


  35 in total

1.  Characterization of a cryptic IGH/CCND1 rearrangement in a case of mantle cell lymphoma with negative CCND1 FISH studies.

Authors:  Jess F Peterson; Linda B Baughn; Rhett P Ketterling; Beth A Pitel; Stephanie A Smoley; George Vasmatzis; James B Smadbeck; Patricia T Greipp; Abhishek A Mangaonkar; Carrie A Thompson; Sameer A Parikh; Dong Chen; David S Viswanatha
Journal:  Blood Adv       Date:  2019-04-23

2.  False-negative rates for MYC fluorescence in situ hybridization probes in B-cell neoplasms.

Authors:  Rebecca L King; Ellen D McPhail; Reid G Meyer; George Vasmatzis; Kathryn Pearce; James B Smadbeck; Rhett P Ketterling; Stephanie A Smoley; Patricia T Greipp; Nicole L Hoppman; Jess F Peterson; Linda B Baughn
Journal:  Haematologica       Date:  2018-12-06       Impact factor: 9.941

3.  Proposal for Modification of Cahan's Criteria Utilizing Molecular Genetic Analyses for Cases without Baseline Histopathology: A Unique Method Applicable to Primary Radiosurgery.

Authors:  Aaron E Rusheen; James B Smadbeck; Lisa A Schimmenti; Eric W Klee; Michael J Link; George Vasmatzis; Matthew L Carlson
Journal:  J Neurol Surg B Skull Base       Date:  2018-05-31

4.  Neoantigenic Potential of Complex Chromosomal Rearrangements in Mesothelioma.

Authors:  Aaron S Mansfield; Tobias Peikert; James B Smadbeck; Julia B M Udell; Enrique Garcia-Rivera; Laura Elsbernd; Courtney L Erskine; Virginia P Van Keulen; Farhad Kosari; Stephen J Murphy; Hongzheng Ren; Vishnu V Serla; Janet L Schaefer Klein; Giannoula Karagouga; Faye R Harris; Carlos Sosa; Sarah H Johnson; Wendy Nevala; Svetomir N Markovic; Aaron O Bungum; Eric S Edell; Haidong Dong; John C Cheville; Marie Christine Aubry; Jin Jen; George Vasmatzis
Journal:  J Thorac Oncol       Date:  2018-10-10       Impact factor: 15.609

5.  TFEB-VEGFA (6p21.1) co-amplified renal cell carcinoma: a distinct entity with potential implications for clinical management.

Authors:  Sounak Gupta; Sarah H Johnson; George Vasmatzis; Binu Porath; Jeannette G Rustin; Priya Rao; Brian A Costello; Bradley C Leibovich; R Houston Thompson; John C Cheville; William R Sukov
Journal:  Mod Pathol       Date:  2017-03-24       Impact factor: 7.842

6.  Copy number variant analysis using genome-wide mate-pair sequencing.

Authors:  James B Smadbeck; Sarah H Johnson; Stephanie A Smoley; Athanasios Gaitatzes; Travis M Drucker; Roman M Zenka; Farhad Kosari; Stephen J Murphy; Nicole Hoppman; Umut Aypar; William R Sukov; Robert B Jenkins; Hutton M Kearney; Andrew L Feldman; George Vasmatzis
Journal:  Genes Chromosomes Cancer       Date:  2018-07-30       Impact factor: 5.006

7.  Integrated analysis of the genomic instability of PTEN in clinically insignificant and significant prostate cancer.

Authors:  Stephen J Murphy; Robert J Karnes; Farhad Kosari; B Edgardo R Parilla Castellar; Benjamin R Kipp; Sarah H Johnson; Simone Terra; Faye R Harris; Geoffrey C Halling; Janet L Schaefer Klein; Aqsa Nasir; Eric Bergstrahl; Laureano J Rangel; William R Sukov; George Vasmatzis; John C Cheville
Journal:  Mod Pathol       Date:  2015-11-27       Impact factor: 7.842

8.  Custom Gene Capture and Next-Generation Sequencing to Resolve Discordant ALK Status by FISH and IHC in Lung Adenocarcinoma.

Authors:  Jin Sung Jang; Xiaoke Wang; Peter T Vedell; Ji Wen; Jinghui Zhang; David W Ellison; Jared M Evans; Sarah H Johnson; Ping Yang; William R Sukov; Andre M Oliveira; George Vasmatzis; Zhifu Sun; Jin Jen; Eunhee S Yi
Journal:  J Thorac Oncol       Date:  2016-06-22       Impact factor: 15.609

9.  Integrated mate-pair and RNA sequencing identifies novel, targetable gene fusions in peripheral T-cell lymphoma.

Authors:  Rebecca L Boddicker; Gina L Razidlo; Surendra Dasari; Yu Zeng; Guangzhen Hu; Ryan A Knudson; Patricia T Greipp; Jaime I Davila; Sarah H Johnson; Julie C Porcher; James B Smadbeck; Bruce W Eckloff; Daniel D Billadeau; Paul J Kurtin; Mark A McNiven; Brian K Link; Stephen M Ansell; James R Cerhan; Yan W Asmann; George Vasmatzis; Andrew L Feldman
Journal:  Blood       Date:  2016-06-13       Impact factor: 22.113

10.  Integrated Genomic Analysis of Pancreatic Ductal Adenocarcinomas Reveals Genomic Rearrangement Events as Significant Drivers of Disease.

Authors:  Stephen J Murphy; Steven N Hart; Geoffrey C Halling; Sarah H Johnson; James B Smadbeck; Travis Drucker; Joema Felipe Lima; Fariborz Rakhshan Rohakhtar; Faye R Harris; Farhad Kosari; Subbaya Subramanian; Gloria M Petersen; Timothy D Wiltshire; Benjamin R Kipp; Mark J Truty; Robert R McWilliams; Fergus J Couch; George Vasmatzis
Journal:  Cancer Res       Date:  2015-12-16       Impact factor: 12.701

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