Computational methods for detecting large-scale structural rearrangements in chromosomes

M Jilani, N Haspel - Exon Publications, 2021 - exonpublications.com
Large-scale structural chromosomal rearrangements or structural variants, such as
insertions, deletions, translocations, and inversions may result in the exchange of coding or …

Statistical considerations on NGS data for inferring copy number variations

J Chen - Deep Sequencing Data Analysis, 2021 - Springer
The next-generation sequencing (NGS) technology has revolutionized research in genetics
and genomics, resulting in massive NGS data and opening more fronts to answer …

A modified information criterion for tuning parameter selection in 1d fused LASSO for inference on multiple change points

J Lee, J Chen - Journal of Statistical Computation and Simulation, 2020 - Taylor & Francis
Inference about multiple change points has been an interesting topic in the statistics
literature. Recently, the high throughput technologies became the most popularly used tools …

A penalized regression approach for DNA copy number study using the sequencing data

J Lee, J Chen - Statistical Applications in Genetics and Molecular …, 2019 - degruyter.com
Modeling the high-throughput next generation sequencing (NGS) data, resulting from
experiments with the goal of profiling tumor and control samples for the study of DNA copy …

Statistical models for DNA copy number variation detection using read‐depth data from next generation sequencing experiments

T Ji, J Chen - Australian & New Zealand Journal of Statistics, 2016 - Wiley Online Library
Summary In this 'Big Data'era, statisticians inevitably encounter data generated from various
disciplines. In particular, advances in bio‐technology have enabled scientists to produce …

X 染色体变异对男性精神发育迟滞致病性的研究进展

彭继苹, 刘芳, 谢华, 陈晓丽 - 遗传, 2017 - chinagene.cn
精神发育迟滞(旧称智力低下) 作为儿科神经科常见的一组疾患, 具有高度的遗传和表型异质性,
大约25%~ 50% 的精神发育迟滞是由遗传因素引起的, 其中X 染色体基因/基因组变异占25 …

A statistical change-point analysis approach for modeling the ratio of next generation sequencing reads

J Chen, H Li - Advances in the Mathematical Sciences: Research …, 2016 - Springer
One of the key features of statistical change-point analysis is to estimate the unknown
change-point locations for various statistical models imposed on the sample data. This …

Place du NGS (Next Generation Sequencing) et de l'ADN tumoral circulant dans le testing moléculaire des cancers bronchiques

N Pécuchet, A Legras, P Laurent-Puig, H Blons - Annales de pathologie, 2016 - Elsevier
Résumé Le diagnostic moléculaire joue aujourd'hui un rôle clé dans la prise en charge des
patients atteints de cancers au stade métastatique. Il est probable que le développement …

[引用][C] A modified information criterion in the 1d fused lasso for DNA copy number variant detection using next generation sequencing data

J Lee - 2017

[引用][C] Sensitivity of phylogenomic inference to the design of NGS target enrichment in non-model organisms

SRP Rocha, DP González