4.7 Article

Empirical design of a variant quality control pipeline for whole genome sequencing data using replicate discordance

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 Biochemistry & Molecular Biology

Pathogenic Germline Variants in 10,389 Adult Cancers

Kuan-lin Huang et al.

Article Multidisciplinary Sciences

DNAp: A Pipeline for DNA-seq Data Analysis

Jason L. Causey et al.

SCIENTIFIC REPORTS (2018)

Article Biochemical Research Methods

ReliableGenome: annotation of genomic regions with high/low variant calling concordance

Niko Popitsch et al.

BIOINFORMATICS (2017)

Review Genetics & Heredity

Reference standards for next-generation sequencing

Simon A. Hardwick et al.

NATURE REVIEWS GENETICS (2017)

Article Genetics & Heredity

Genetic variation in human drug-related genes

Charlotta Pauline Irmgard Scharfe et al.

GENOME MEDICINE (2017)

Article Genetics & Heredity

Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease

Maria Victoria Fernandez et al.

PLOS GENETICS (2017)

Article Biotechnology & Applied Microbiology

Transversions have larger regulatory effects than transitions

Cong Guo et al.

BMC GENOMICS (2017)

Editorial Material Genetics & Heredity

Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses

Ian M. Campbell et al.

HUMAN MUTATION (2016)

Article Biochemistry & Molecular Biology

On the Causes of Evolutionary Transition: Transversion Bias

Arlin Stoltzfus et al.

MOLECULAR BIOLOGY AND EVOLUTION (2016)

Article Biochemistry & Molecular Biology

ClinVar: public archive of interpretations of clinically relevant variants

Melissa J. Landrum et al.

NUCLEIC ACIDS RESEARCH (2016)

Article Biochemistry & Molecular Biology

Whole-Genome Sequencing of a Healthy Aging Cohort

Galina A. Erikson et al.

Article Biochemistry & Molecular Biology

Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians

Yun Freudenberg-Hua et al.

HUMAN MOLECULAR GENETICS (2016)

Article Multidisciplinary Sciences

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek et al.

NATURE (2016)

Article Biotechnology & Applied Microbiology

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

Rong Chen et al.

NATURE BIOTECHNOLOGY (2016)

Review Genetics & Heredity

Coming of age: ten years of next-generation sequencing technologies

Sara Goodwin et al.

NATURE REVIEWS GENETICS (2016)

Article Genetics & Heredity

Analysis of Human Triallelic SNPs by Next-Generation Sequencing

Min Cao et al.

ANNALS OF HUMAN GENETICS (2015)

Article Genetics & Heredity

RIG: Recalibration and Interrelation of Genomic Sequence Data with the GATK

Ryan F. McCormick et al.

G3-GENES GENOMES GENETICS (2015)

Article Biochemical Research Methods

VariantAnnotation: a Bioconductor package for exploration and annotation of genetic variants

Valerie Obenchain et al.

BIOINFORMATICS (2014)

Article Biochemical Research Methods

Effective filtering strategies to improve data quality from population-based whole exome sequencing studies

Andrew R. Carson et al.

BMC BIOINFORMATICS (2014)

Article Biochemical Research Methods

Three-stage quality control strategies for DNA re-sequencing data

Yan Guo et al.

BRIEFINGS IN BIOINFORMATICS (2014)

Article Evolutionary Biology

Increased Substitution Rates Surrounding Low-Complexity Regions within Primate Proteins

Carolyn Lenz et al.

GENOME BIOLOGY AND EVOLUTION (2014)

Article Biotechnology & Applied Microbiology

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

Justin M. Zook et al.

NATURE BIOTECHNOLOGY (2014)

Review Genetics & Heredity

The role of replicates for error mitigation in next-generation sequencing

Kimberly Robasky et al.

NATURE REVIEWS GENETICS (2014)

Article Genetics & Heredity

Validation and assessment of variant calling pipelines for next-generation sequencing

Mehdi Pirooznia et al.

HUMAN GENOMICS (2014)

Article Medical Laboratory Technology

Design and Analytical Validation of Clinical DNA Sequencing Assays

Genevieve Pont-Kingdon et al.

ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE (2012)

Article Biochemical Research Methods

Snakemake-a scalable bioinformatics workflow engine

Johannes Koester et al.

BIOINFORMATICS (2012)

Editorial Material Cell Biology

Fixing cystic fibrosis by correcting CFTR domain assembly

Tsukasa Okiyoneda et al.

JOURNAL OF CELL BIOLOGY (2012)

Article Multidisciplinary Sciences

An integrated encyclopedia of DNA elements in the human genome

Ian Dunham et al.

NATURE (2012)

Article Multidisciplinary Sciences

An integrated map of genetic variation from 1,092 human genomes

David M. Altshuler et al.

NATURE (2012)

Article Multidisciplinary Sciences

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Jacob A. Tennessen et al.

SCIENCE (2012)

Article Biochemical Research Methods

The variant call format and VCFtools

Petr Danecek et al.

BIOINFORMATICS (2011)

Article Genetics & Heredity

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo et al.

NATURE GENETICS (2011)

Article Biochemistry & Molecular Biology

seqMINER: an integrated ChIP-seq data interpretation platform

Tao Ye et al.

NUCLEIC ACIDS RESEARCH (2011)

Article Genetics & Heredity

Simultaneous Analysis of All SNPs in Genome-Wide and Re-Sequencing Association Studies

Clive J. Hoggart et al.

PLOS GENETICS (2008)

Article Biochemistry & Molecular Biology

dbSNP: the NCBI database of genetic variation

ST Sherry et al.

NUCLEIC ACIDS RESEARCH (2001)