NGSCheckMate: software for validating sample identity in next-generation sequencing studies within and across data types

Genes with monoallelic expression contribute disproportionately to genetic diversity in humans

(2016) Virginia Savova et al.   NATURE GENETICS

Copy number analysis of whole-genome data using BIC-seq2 and its application to detection of cancer susceptibility variants

(2016) Ruibin Xi et al.   NUCLEIC ACIDS RESEARCH

Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo

(2015) Matthew T Maurano et al.   NATURE GENETICS

Somatic mutation in single human neurons tracks developmental and transcriptional history

(2015) M. A. Lodato et al.   SCIENCE

Identification and Correction of Sample Mix-Ups in Expression Genetic Data: A Case Study

(2015) Karl W. Broman et al.   G3-Genes Genomes Genetics

Comprehensive molecular characterization of gastric adenocarcinoma

(2014) Adam J. Bass et al.   NATURE

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

(2014) Justin M Zook et al.   NATURE BIOTECHNOLOGY

EGFR Variant Heterogeneity in Glioblastoma Resolved through Single-Nucleus Sequencing

(2014) J. M. Francis et al.   Cancer Discovery

MODMatcher: Multi-Omics Data Matcher for Integrative Genomic Analysis

(2014) Seungyeul Yoo et al.   PLoS Computational Biology

A tool for RNA sequencing sample identity check

(2013) Jinyan Huang et al.   BIOINFORMATICS

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Extensive Variation in Chromatin States Across Humans

(2013) M. Kasowski et al.   SCIENCE

A SNP profiling panel for sample tracking in whole-exome sequencing studies

(2013) Reuben J Pengelly et al.   Genome Medicine

Population Genetic Inference from Personal Genome Data: Impact of Ancestry and Admixture on Human Genomic Variation

(2012) Jeffrey M. Kidd et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

A Bioinformatics Approach for Determining Sample Identity from Different Lanes of High-Throughput Sequencing Data

(2011) Rachel L. Goldfeder et al.   PLoS One

Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion

(2011) R. Xi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Data quality control in genetic case-control association studies

(2010) Carl A Anderson et al.   Nature Protocols

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS