Search results: Sage Journals

Open accessReview articleFirst published 2014

Review of Current Methods,Applications,and Data Management for the Bioinformatics Analysis of Whole Exome Sequencing

Riyue Bao, Lei Huang, Jorge Andrade [...]

Cancer Informatics

Open accessResearch articleFirst published June, 2019

Linkage analysis and whole exome sequencing identify a novel candidate gene in a Dutch multiple sclerosis family

Julia Y Mescheriakova, Annemieke JMH Verkerk, Najaf Amin [...]

Multiple Sclerosis Journal

Restricted accessResearch articleFirst published August 18, 2020

Whole-Exome Sequencing Analysis of Alzheimer’s Disease in Non- APOE*4 Carriers

Kang-Hsien Fan, Eleanor Feingold, Samantha L. Rosenthal [...]

Journal of Alzheimer’s Disease

Restricted accessResearch articleFirst published December, 2024

Detection of Genetic Variations in Children with Tetralogy of Fallot Using Whole Exome Sequencing Technology Integrated Bioinformatics Analysis

Khalid Mohamoud Abdullahi, Ahmed Faisal Ali, Mohamed Mohamoud Adan [...]

Genetic Testing and Molecular Biomarkers

Restricted accessBrief reportFirst published April 6, 2021

Whole-Exome Sequencing and C9orf72 Analysis in Primary Progressive Aphasia

Vanesa Pytel, Laura Hernández-Lorenzo, Laura Torre-Fuentes [...]

Journal of Alzheimer’s Disease

Open accessReview articleFirst published 2020

inCNV: An Integrated Analysis Tool for Copy Number Variation on Whole Exome Sequencing

Saowwapark Chanwigoon, Sakkayaphab Piwluang, Duangdao Wichadakul

Evolutionary Bioinformatics

Open accessCase reportFirst published 2026

Mitigating Genetic Diagnostic Errors and Unwarranted Cascade Testing: Two Illustrative Cases

Surya Balakrishnan, Ambika Gupta, Khyati Arora [...]

Apollo Medicine

Restricted accessResearch articleFirst published July, 2016

Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy

Lin Zhang, Yeming Yang, Shujin Li [...]

Genetic Testing and Molecular Biomarkers

Open accessResearch articleFirst published 2022

Both subthalamic and pallidal deep brain stimulation are effective for GNAO1 -associated dystonia: three case reports and a literature review

Ye Liu, Qingping Zhang, Jun Wang [...]

Therapeutic Advances in Neurological Disorders

Open accessResearch articleFirst published 2024

Analysis of tumor mutational burden and mutational landscape comparing whole-exome sequencing and comprehensive genomic profiling in patients with resectable early-stage non-small-cell lung cancer

Su-Jin Choi, Jii Bum Lee, Jae Hwan Kim [...]

Therapeutic Advances in Medical Oncology

Open accessReview articleFirst published 2014

Review of Current Methods,Applications,and Data Management for the Bioinformatics Analysis of Whole Exome Sequencing

Riyue Bao, Lei Huang, Jorge Andrade [...]

Cancer Informatics

Open accessResearch articleFirst published June, 2019

Linkage analysis and whole exome sequencing identify a novel candidate gene in a Dutch multiple sclerosis family

Julia Y Mescheriakova, Annemieke JMH Verkerk, Najaf Amin [...]

Multiple Sclerosis Journal

Restricted accessResearch articleFirst published August 18, 2020

Whole-Exome Sequencing Analysis of Alzheimer’s Disease in Non- APOE*4 Carriers

Kang-Hsien Fan, Eleanor Feingold, Samantha L. Rosenthal [...]

Journal of Alzheimer’s Disease

Restricted accessResearch articleFirst published December, 2024

Detection of Genetic Variations in Children with Tetralogy of Fallot Using Whole Exome Sequencing Technology Integrated Bioinformatics Analysis

Khalid Mohamoud Abdullahi, Ahmed Faisal Ali, Mohamed Mohamoud Adan [...]

Genetic Testing and Molecular Biomarkers

Restricted accessBrief reportFirst published April 6, 2021

Whole-Exome Sequencing and C9orf72 Analysis in Primary Progressive Aphasia

Vanesa Pytel, Laura Hernández-Lorenzo, Laura Torre-Fuentes [...]

Journal of Alzheimer’s Disease

Open accessReview articleFirst published 2020

inCNV: An Integrated Analysis Tool for Copy Number Variation on Whole Exome Sequencing

Saowwapark Chanwigoon, Sakkayaphab Piwluang, Duangdao Wichadakul

Evolutionary Bioinformatics

Open accessCase reportFirst published 2026

Mitigating Genetic Diagnostic Errors and Unwarranted Cascade Testing: Two Illustrative Cases

Surya Balakrishnan, Ambika Gupta, Khyati Arora [...]

Apollo Medicine

Restricted accessResearch articleFirst published July, 2016

Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy

Lin Zhang, Yeming Yang, Shujin Li [...]

Genetic Testing and Molecular Biomarkers

Open accessResearch articleFirst published 2022

Both subthalamic and pallidal deep brain stimulation are effective for GNAO1 -associated dystonia: three case reports and a literature review

Ye Liu, Qingping Zhang, Jun Wang [...]

Therapeutic Advances in Neurological Disorders

Open accessResearch articleFirst published 2024

Analysis of tumor mutational burden and mutational landscape comparing whole-exome sequencing and comprehensive genomic profiling in patients with resectable early-stage non-small-cell lung cancer

Su-Jin Choi, Jii Bum Lee, Jae Hwan Kim [...]

Therapeutic Advances in Medical Oncology