Detecting Mutations and Variants

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Overview of Admixture Mapping
Daniel Shriner
Published online: July 2017
Copy‐Number Variants Detection by Low‐Pass Whole‐Genome Sequencing
Zirui Dong, Weiwei Xie, Haixiao Chen, Jinjin Xu, Huilin Wang, Yun Li, Jun Wang, Fang Chen, Kwong Wai Choy, Hui Jiang
Published online: July 2017
Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
Babi Ramesh Reddy Nallamilli, Madhuri Hegde
Published online: July 2017
NEBNext Direct: A Novel, Rapid, Hybridization‐Based Approach for the Capture and Library Conversion of Genomic Regions of Interest
Amy B. Emerman, Sarah K. Bowman, Andrew Barry, Noa Henig, Kruti M. Patel, Andrew F. Gardner, Cynthia L. Hendrickson
Published online: July 2017
Overview of Transgenic Mouse Models of Myeloproliferative Neoplasms (MPNs)
Andrew Dunbar, Abbas Nazir, Ross Levine
Published online: June 2017
Direct Isolation of Seamless Mutant Bacterial Artificial Chromosomes
George T. Lyozin, Yasuhiro Kosaka, Gourab Bhattacharje, H. Joseph Yost, Luca Brunelli
Published online: April 2017
Next‐Generation Sequencing for Identification of EMS‐Induced Mutations in Caenorhabditis elegans
Nicolas J. Lehrbach, Fei Ji, Ruslan Sadreyev
Published online: January 2017
ascatNgs: Identifying Somatically Acquired Copy‐Number Alterations from Whole‐Genome Sequencing Data
Keiran M. Raine, Peter Van Loo, David C. Wedge, David Jones, Andrew Menzies, Adam P. Butler, Jon W. Teague, Patrick Tarpey, Serena Nik‐Zainal, Peter J. Campbell
Published online: December 2016
cgpCaVEManWrapper: Simple Execution of CaVEMan in Order to Detect Somatic Single Nucleotide Variants in NGS Data
David Jones, Keiran M. Raine, Helen Davies, Patrick S. Tarpey, Adam P. Butler, Jon W. Teague, Serena Nik‐Zainal, Peter J. Campbell
Published online: December 2016
Genetic Risk Scores
Jessica N. Cooke Bailey, Robert P. Igo
Published online: October 2016
Quality Control for the Illumina HumanExome BeadChip
Robert P. Igo, Jessica N. Cooke Bailey, Jane Romm, Jonathan L. Haines, Janey L. Wiggs
Published online: July 2016
Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer
Johan T. den Dunnen
Published online: July 2016
Using ClinVar as a Resource to Support Variant Interpretation
Steven M. Harrison, Erin R. Riggs, Donna R. Maglott, Jennifer M. Lee, Danielle R. Azzariti, Annie Niehaus, Erin M. Ramos, Christa L. Martin, Melissa J. Landrum, Heidi L. Rehm
Published online: April 2016
Optimized MOL‐PCR for Characterization of Microbial Pathogens
Véronique Wuyts, Nancy H.C. Roosens, Sophie Bertrand, Kathleen Marchal, Sigrid C.J. De Keersmaecker
Published online: January 2016
In Silico Functional Annotation of Genomic Variation
Mariusz Butkiewicz, William S. Bush
Published online: January 2016
Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches
Thomas W. Prior, Narasimhan Nagan
Published online: January 2016
Molecular Diagnosis of Cystic Fibrosis
Joshua L. Deignan, Wayne W. Grody
Published online: January 2016
VAGrENT: Variation Annotation Generator
Andy Menzies, Jon W. Teague, Adam P. Butler, Helen Davies, Patrick Tarpey, Serena Nik‐Zainal, Peter J. Campbell
Published online: December 2015
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