4.6 Article

Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemical Research Methods

SomatoSim: precision simulation of somatic single nucleotide variants

Marwan A. Hawari et al.

Summary: SomatoSim is a user-friendly tool that allows users to simulate somatic single nucleotide variants in SAM/BAM files with full control over various parameters. It offers a high level of customizability to enhance understanding of single nucleotide variant calling performance.

BMC BIOINFORMATICS (2021)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Biochemistry & Molecular Biology

COSMIC: the Catalogue Of Somatic Mutations In Cancer

John G. Tate et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Biochemistry & Molecular Biology

ClinVar: improving access to variant interpretations and supporting evidence

Melissa J. Landrum et al.

NUCLEIC ACIDS RESEARCH (2018)

Review Genetics & Heredity

Detecting Somatic Mutations in Normal Cells

Yanmei Dou et al.

TRENDS IN GENETICS (2018)

Review Biochemistry & Molecular Biology

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

Chang Xu

COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL (2018)

Article Multidisciplinary Sciences

Evaluating Variant Calling Tools for Non-Matched Next-Generation Sequencing Data

Sarah Sandmann et al.

SCIENTIFIC REPORTS (2017)

Article Genetics & Heredity

Lack of Mutation-Histopathology Correlation in a Patient with Proteus Syndrome

Meggie E. Doucet et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)

Article Biochemical Research Methods

Illumina error profiles: resolving fine-scale variation in metagenomic sequencing data

Melanie Schirmer et al.

BMC BIOINFORMATICS (2016)

Article Biochemistry & Molecular Biology

VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research

Zhongwu Lai et al.

NUCLEIC ACIDS RESEARCH (2016)

Article Biochemistry & Molecular Biology

Discriminating somatic and germline mutations in tumor DNA samples without matching normals

Saskia Hiltemann et al.

GENOME RESEARCH (2015)

Article Biochemistry & Molecular Biology

Insight into biases and sequencing errors for amplicon sequencing with the Illumina MiSeq platform

Melanie Schirmer et al.

NUCLEIC ACIDS RESEARCH (2015)

Article Genetics & Heredity

PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation

Kim M. Keppler-Noreuil et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)

Article Biochemical Research Methods

Subclonal variant calling with multiple samples and prior knowledge

Moritz Gerstung et al.

BIOINFORMATICS (2014)

Article Genetics & Heredity

Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP

Ghayda M. Mirzaa et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2013)

Article Biotechnology & Applied Microbiology

A new approach for detecting low-level mutations in next-generation sequence data

Mingkun Li et al.

GENOME BIOLOGY (2012)

Article Medicine, General & Internal

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

Marjorie J. Lindhurst et al.

NEW ENGLAND JOURNAL OF MEDICINE (2011)

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Biochemical Research Methods

The Sequence Alignment/Map format and SAMtools

Heng Li et al.

BIOINFORMATICS (2009)