pypi: CAVA | Projects | Ecosyste.ms: Papers

10.1093/jamiaopen/ooab065

P2T2: Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants
Cited by: 0
Author(s): Elias DeVoe, Gavin R. Oliver, Roman M. Zenka, Patrick R. Blackburn, Margot A. Cousin, Nicole J. Boczek, Jean-Pierre A. Kocher, Raúl Urrutia, Eric W. Klee, Michael T. Zimmermann
Software Mentions: 5
Published: over 3 years ago

10.1186/s12859-017-1549-4

BBCAnalyzer: a visual approach to facilitate variant calling
Cited by: 0
Author(s): Sarah Sandmann, Aniek O. de Graaf, Martin Dugas
Software Mentions: 4
Published: almost 8 years ago

10.1016/j.ajhg.2017.03.010

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability
Cited by: 145
Author(s): Katrina Tatton‐Brown, Chey Loveday, Shawn Yost, Matthew Clarke, Emma Ramsay, Anna Zachariou, Anna Elliott, Harriet Wylie, Anna Ardissone, Olaf Rittinger, Fiona Stewart, I. Karen Temple, Trevor Cole, Shazia Mahamdallie, Sheila Seal, Elise Ruark, Nazneen Rahman
Software Mentions: 3
Published: over 7 years ago

10.1186/s12864-017-4374-2

A survey on cellular RNA editing activity in response to Candida albicans infections
Cited by: 3
Author(s): Yao‐Wei Huang, Yingying Cao, Jiarui Li, Yuanhua Liu, Zhong Wu, Xuan Li, Chen Chen, Pei Hao
Software Mentions: 3
Published: almost 7 years ago

10.12688/f1000research.8219.2

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis
Cited by: 0
Author(s): Elise Ruark, Anthony Renwick, Matthew Clarke, Katie Snape, Emma Ramsay, Anna Elliott, Sandra Hanks, Ann Strydom, Sheila Seal, Nazneen Rahman
Software Mentions: 3
Published: over 6 years ago

10.12688/f1000research.7049.1

The ICR1000 UK exome series: a resource of gene variation in an outbred population
Cited by: 21
Author(s): Elise Ruark, Márton Münz, Anthony Renwick, Matthew Clarke, Emma Ramsay, Sandra Hanks, Shazia Mahamdallie, Anna Elliott, Sheila Seal, Ann Strydom, Lunter Gerton, Nazneen Rahman
Software Mentions: 3
Published: about 9 years ago

10.1186/s13073-015-0195-6

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting
Cited by: 49
Author(s): Márton Münz, Elise Ruark, Anthony Renwick, Emma Ramsay, Matthew Clarke, Shazia Mahamdallie, Victoria Cloke, Sheila Seal, Ann Strydom, Gerton Lunter, Nazneen Rahman
Software Mentions: 3
Published: over 9 years ago

10.1038/srep31029

OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis
Cited by: 10
Author(s): Elise Ruark, Márton Münz, Matthew Clarke, Anthony Renwick, Emma Ramsay, Anna Elliott, Sheila Seal, Gerton Lunter, Nazneen Rahman
Software Mentions: 3
Published: over 8 years ago

10.1093/hmg/ddv182

Mutations in the PP2A regulatory subunit B family genesPPP2R5B,PPP2R5CandPPP2R5Dcause human overgrowth
Cited by: 68
Author(s): Chey Loveday, Katrina Tatton‐Brown, Matthew Clarke, Isaac M. Westwood, Anthony Renwick, Emma Ramsay, Andrea H. Németh, Jennifer Campbell, Shelagh Joss, McKinlay Gardner, Anna Zachariou, Anna Elliott, Elise Ruark, Rob van Montfort, Nazneen Rahman
Software Mentions: 3
Published: over 9 years ago

10.3389/fgene.2018.00276

Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties
Cited by: 11
Author(s): Michael T. Zimmermann, Raúl Urrutia, Margot A. Cousin, Gavin R. Oliver, Eric W. Klee
Software Mentions: 2
Published: over 6 years ago

10.1186/s12920-021-01032-8

Somatic mutations in benign breast disease tissues and association with breast cancer risk
Cited by: 2
Author(s): Stacey J. Winham, Chen Wang, Ethan P. Heinzen, Aditya Bhagwate, Yuanhang Liu, Samantha J. McDonough, Melody Stallings-Mann, Marlene H. Frost, Robert A. Vierkant, Lori A. Denison, Jodi M. Carter, Mark E. Sherman, Derek C. Radisky, Amy C. Degnim, Julie M. Cunningham
Software Mentions: 2
Published: over 3 years ago

10.7554/eLife.59554

Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome
Cited by: 27
Author(s): Jeanne L. Theis, Georg Vogler, Maria A. Missinato, Xing Li, Tanja Nielsen, Xin-Xin I. Zeng, Almudena Martinez‐Fernandez, Stanley M. Walls, Anaïs Kervadec, James N. Kezos, Katja Birker, Jared M. Evans, Megan M. O’Byrne, Zachary Fogarty, André Terzic, Paul Grossfeld, Karen Ocorr, T. J. N. Nelson, Timothy M. Olson, Alexandre R. Colas, Rolf Bodmer
Software Mentions: 2
Published: about 4 years ago

10.1186/1471-2105-8-3

FLAME, a novel fuzzy clustering method for the analysis of DNA microarray data
Cited by: 433
Author(s): Li‐Chen Fu, Enzo Medico
Software Mentions: 2
Published: almost 18 years ago

10.2196/19612

Amplifying Domain Expertise in Clinical Data Pipelines
Cited by: 9
Author(s): Protiva Rahman, Arnab Nandi, Courtney Hebert
Software Mentions: 2
Published: about 4 years ago

10.3390/molecules25020357

Systematic Detection and Identification of Bioactive Ingredients from Citrus aurantium L. var. amara Using HPLC-Q-TOF-MS Combined with a Screening Method
Cited by: 17
Author(s): Liuyi Yu, Chen Miao-fen, Jinghong Liu, Xiuqiong Huang, Wei He, Zhixing Qing, Jianguo Zeng
Software Mentions: 1
Published: almost 5 years ago

10.1038/s41598-019-45630-0

Global ozone depletion and increase of UV radiation caused by pre-industrial tropical volcanic eruptions
Cited by: 23
Author(s): Hans Brenna, Steffen Kutterolf, Kirstin Krüger
Software Mentions: 1
Published: over 5 years ago

10.1371/journal.pone.0062286

Volume Quantification of Acute Infratentorial Hemorrhage with Computed Tomography: Validation of the Formula 1/2ABC and 2/3SH
Cited by: 13
Author(s): Wanlin Yang, Feng Yan, Yunyun Zhang, Jing Yan, Yi Fu, Shengdi Chen
Software Mentions: 1
Published: over 11 years ago

10.1038/s41598-019-46970-7

An investigation into the diagnostic accuracy, reliability, acceptability and safety of a novel device for Continuous Ambulatory Vestibular Assessment (CAVA)
Cited by: 18
Author(s): John S. Phillips, Jacob L. Newman, Stephen J. Cox
Software Mentions: 1
Published: over 5 years ago

10.1007/s10689-017-0050-6

Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine
Cited by: 7
Author(s): Aleksander Myszka, Tú Nguyen-Dumont, Paweł Karpiński, Maria M. Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Ryszard Ślężak, Nataliya Kitsera, A Siekierzyńska, Melissa C. Southey
Software Mentions: 1
Published: about 7 years ago

10.1186/s12881-018-0524-x

FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine
Cited by: 20
Author(s): Tú Nguyen-Dumont, Aleksander Myszka, Paweł Karpiński, Maria M. Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Ryszard Ślężak, Nataliya Kitsera, A Siekierzyńska, Melissa C. Southey
Software Mentions: 1
Published: almost 7 years ago

10.1016/j.bspc.2021.102708

Detecting positional vertigo using an ensemble of 2D convolutional neural networks
Cited by: 4
Author(s): Jacob L. Newman, John S. Phillips, Stephen J. Cox
Software Mentions: 1
Published: over 3 years ago

Ecosyste.ms: Papers

Projects: pypi: CAVA

Papers Mentioning CAVA 21