Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposure

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

(2017) Hákon Jónsson et al.   NATURE

Whole-genome mutational landscape and characterization of noncoding and structural mutations in liver cancer

(2016) Akihiro Fujimoto et al.   NATURE GENETICS

Genome-wide characteristics of de novo mutations in autism

(2016) Ryan KC Yuen et al.   npj Genomic Medicine

Agent Orange Exposure and 2,3,7,8-Tetrachlorodibenzo-p-Dioxin (TCDD) in Human Milk

(2015) Anthony R. Scialli et al.   BIRTH DEFECTS RESEARCH PART B-DEVELOPMENTAL AND REPRODUCTIVE TOXICOLOGY

A systematic screening to identifyde novomutations causing sporadic early-onset Parkinson's disease

(2015) Celia Kun-Rodrigues et al.   HUMAN MOLECULAR GENETICS

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease

(2015) A Rovelet-Lecrux et al.   MOLECULAR PSYCHIATRY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Genome-wide patterns and properties of de novo mutations in humans

(2015) Laurent C Francioli et al.   NATURE GENETICS

Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR

(2015) Hui Yang et al.   Nature Protocols

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

(2015) J. Homsy et al.   SCIENCE

Levels of polychlorinated dibenzodioxins and polychlorinated dibenzofurans in breast milk samples from three dioxin-contaminated hotspots of Vietnam

(2015) Ho Dung Manh et al.   SCIENCE OF THE TOTAL ENVIRONMENT

Whole-genome mutational landscape of liver cancers displaying biliary phenotype reveals hepatitis impact and molecular diversity

(2015) Akihiro Fujimoto et al.   Nature Communications

Vertical distribution of dioxins in soil of Bien Hoa airbase, Vietnam

(2015) Dang Thuong Huyen et al.   SpringerPlus

Serum Dioxin Levels in Vietnamese Men more than 40 Years after Herbicide Spraying

(2014) Ho Dung Manh et al.   ENVIRONMENTAL SCIENCE & TECHNOLOGY

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A practical method to detect SNVs and indels from whole genome and exome sequencing data

(2013) Daichi Shigemizu et al.   Scientific Reports

Blood levels of dioxins, furans, dioxin-like PCBs, and TEQs in general populations: A review, 1989–2010

(2012) Dario Consonni et al.   ENVIRONMENT INTERNATIONAL

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators

(2012) Akihiro Fujimoto et al.   NATURE GENETICS

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

A segmental maximum a posteriori approach to genome-wide copy number profiling

(2008) Robin Andersson et al.   BIOINFORMATICS

Apparent Half-Lives of Dioxins, Furans, and Polychlorinated Biphenyls as a Function of Age, Body Fat, Smoking Status, and Breast-Feeding

(2008) Meghan O’Grady Milbrath et al.   ENVIRONMENTAL HEALTH PERSPECTIVES

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE