1. ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. Issue 1 (December 2017) Authors: Patel, Ronak; Shah, Neethu; Jackson, Andrew; Ghosh, Rajarshi; Pawliczek, Piotr; Paithankar, Sameer; Baker, Aaron; Riehle, Kevin; Chen, Hailin; Milosavljevic, Sofia; Bizon, Chris; Rynearson, Shawn; Nelson, Tristan; Jarvik, Gail; Rehm, Heidi; Harrison, Steven; Azzariti, Danielle; Powell, Bradford; ... Journal: Genome medicine Issue: Volume 9:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data. Issue 1 (December 2016) Authors: Rustagi, Navin; Hampton, Oliver; Li, Jie; Xi, Liu; Gibbs, Richard; Plon, Sharon; Kimmel, Marek; Wheeler, David Journal: BMC bioinformatics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data. Issue 1 (December 2016) Authors: Rustagi, Navin; Hampton, Oliver; Li, Jie; Xi, Liu; Gibbs, Richard; Plon, Sharon; Kimmel, Marek; Wheeler, David Journal: BMC bioinformatics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. ITD assembler: an algorithm for internal tandem duplication discovery from short-read sequencing data. Issue 1 (December 2016) Authors: Rustagi, Navin; Hampton, Oliver; Li, Jie; Xi, Liu; Gibbs, Richard; Plon, Sharon; Kimmel, Marek; Wheeler, David Journal: BMC bioinformatics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. LGG-04. Clinical and molecular characterization of metastatic pediatric low grade gliomas. (3rd June 2022) Authors: Lindsay, Holly; Stuckert, Austin; Chintagumpala, Murali; Su, Jack; Baxter, Patricia; Okcu, M Fatih; Malbari, Fatema; Rednam, Surya; Reuther, Jacquelyn; Fisher, Kevin; Scollon, Sarah; Plon, Sharon; Roy, Angshumoy; Parsons, D Will; Lin, Frank Journal: Neuro-oncology Issue: Volume 24(2022)Supplement 1 Page Start: i87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Somatic cancer variant curation and harmonization through consensus minimum variant level data. Issue 1 (December 2016) Authors: Ritter, Deborah; Roychowdhury, Sameek; Roy, Angshumoy; Rao, Shruti; Landrum, Melissa; Sonkin, Dmitriy; Shekar, Mamatha; Davis, Caleb; Hart, Reece; Micheel, Christine; Weaver, Meredith; Van Allen, Eliezer M.; Parsons, Donald; McLeod, Howard; Watson, Michael; Plon, Sharon; Kulkarni, Shashikant; Mad... Journal: Genome medicine Issue: Volume 8:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. SV-STAT accurately detects structural variation via alignment to reference-based assemblies. Issue 1 (December 2016) Authors: Davis, Caleb; Ritter, Deborah; Wheeler, David; Wang, Hongmei; Ding, Yan; Dugan, Shannon; Bainbridge, Matthew; Muzny, Donna; Rao, Pulivarthi; Man, Tsz-Kwong; Plon, Sharon; Gibbs, Richard; Lau, Ching Journal: Source code for biology and medicine Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. TBIO-20. CLINICAL TUMOR WHOLE EXOME SEQUENCING FOR PEDIATRIC NEURO-ONCOLOGY PATIENTS – RESULTS FROM THE BAYLOR ADVANCING SEQUENCING IN CHILDHOOD CANCER CARE (BASIC3) CLINICAL SEQUENCING STUDY. Issue 2 (22nd June 2018) Authors: Lin, Frank; Potter, Samara; Ting, Michelle; Chandramohan, Raghu; Kakkar, Nipun; Wang, Tao; Raesz-Martinez, Robin; Scollon, Sarah; Bergstrom, Katie; Lopez-Terrada, Dolores; Adesina, Adekunle; Mohila, Carrie; Whitehead, William; Ramamurthy, Uma; Hilsenbeck, Susan; Wheeler, David; Berg, Stacey; Chin... Journal: Neuro-oncology Issue: Volume 20:Issue 2(2018)supplement 2 Page Start: i184 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗