Goodness-of-fit tests for disorder detection in NGS experiments

New FDR bounds for discrete and heterogeneous tests

(2018) Sebastian Döhler et al.   Electronic Journal of Statistics

A review of somatic single nucleotide variant calling algorithms for next-generation sequencing data

(2018) Chang Xu   Computational and Structural Biotechnology Journal

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

(2016) Tieming Ji et al.   AUSTRALIAN & NEW ZEALAND JOURNAL OF STATISTICS

SiNVICT: ultra-sensitive detection of single nucleotide variants and indels in circulating tumour DNA

(2016) Can Kockan et al.   BIOINFORMATICS

Genome Landscapes of Disease: Strategies to Predict the Phenotypic Consequences of Human Germline and Somatic Variation

(2016) Rachel Karchin et al.   PLoS Computational Biology

Single nucleotide variations: Biological impact and theoretical interpretation

(2014) Panagiotis Katsonis et al.   PROTEIN SCIENCE

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

(2013) Min Zhao et al.   BMC BIOINFORMATICS

CONTRA: copy number analysis for targeted resequencing

(2012) Jason Li et al.   BIOINFORMATICS

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

Summarizing and correcting the GC content bias in high-throughput sequencing

(2012) Yuval Benjamini et al.   NUCLEIC ACIDS RESEARCH

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

(2011) Jarupon Fah Sathirapongsasuti et al.   BIOINFORMATICS

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Next-generation sequencing in aging research: Emerging applications, problems, pitfalls and possible solutions

(2009) João Pedro de Magalhães et al.   AGEING RESEARCH REVIEWS

Population-genetic nature of copy number variations in the human genome

(2009) Mamoru Kato et al.   HUMAN MOLECULAR GENETICS