Genomic approaches to the assessment of human spina bifida risk

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

(2016) Tychele N. Turner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prevalence and trend of neural tube defects in five counties in Shanxi province of Northern China, 2000 to 2014

(2016) Jufen Liu et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Genetic and epigenetic heterogeneity in acute myeloid leukemia

(2016) Sheng Li et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Localizing Ashkenazic Jews to Primeval Villages in the Ancient Iranian Lands of Ashkenaz

(2016) Ranajit Das et al.   Genome Biology and Evolution

Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops

(2016) Caitlin Mullins et al.   NEURON

Prevalence and trend of neural tube defects in five counties in Shanxi province of Northern China, 2000 to 2014

(2016) Jufen Liu et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Extensive sequencing of seven human genomes to characterize benchmark reference materials

(2016) Justin M. Zook et al.   Scientific Data

Genetics and genomics of autism spectrum disorder: embracing complexity

(2015) Silvia De Rubeis et al.   HUMAN MOLECULAR GENETICS

Rare LRP6 Variants Identified in Spina Bifida Patients

(2015) Yunping Lei et al.   HUMAN MUTATION

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

(2015) Satoko Miyatake et al.   JOURNAL OF HUMAN GENETICS

Loss-of-function de novo mutations play an important role in severe human neural tube defects

(2015) Philippe Lemay et al.   JOURNAL OF MEDICAL GENETICS

Gene hunting in autism spectrum disorder: on the path to precision medicine

(2015) Daniel H Geschwind et al.   LANCET NEUROLOGY

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant et al.   NATURE

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

(2015) Jenny C Taylor et al.   NATURE GENETICS

The role of regulatory variation in complex traits and disease

(2015) Frank W. Albert et al.   NATURE REVIEWS GENETICS

Long term trends in prevalence of neural tube defects in Europe: population based study

(2015) Babak Khoshnood et al.   BMJ-British Medical Journal

Big Data: Astronomical or Genomical?

(2015) Zachary D. Stephens et al.   PLOS BIOLOGY

Long term trends in prevalence of neural tube defects in Europe: population based study

(2015) Babak Khoshnood et al.   BMJ-British Medical Journal

Geospatial Resolution of Human and Bacterial Diversity with City-Scale Metagenomics

(2015) Ebrahim Afshinnekoo et al.   Cell Systems

Age-Related Macular Degeneration: Genetics and Biology Coming Together

(2014) Lars G. Fritsche et al.   Annual Review of Genomics and Human Genetics

PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data

(2014) Chen Wang et al.   BIOINFORMATICS

No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia

(2014) Douglas M Ruderfer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data

(2014) Renjie Tan et al.   HUMAN MUTATION

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Multi-platform assessment of transcriptome profiling using RNA-seq in the ABRF next-generation sequencing study

(2014) Sheng Li et al.   NATURE BIOTECHNOLOGY

Detecting and correcting systematic variation in large-scale RNA sequencing data

(2014) Sheng Li et al.   NATURE BIOTECHNOLOGY

A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium

(2014)   NATURE BIOTECHNOLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Genetic variability in the regulation of gene expression in ten regions of the human brain

(2014) Adaikalavan Ramasamy et al.   NATURE NEUROSCIENCE

Ensembl 2015

(2014) Fiona Cunningham et al.   NUCLEIC ACIDS RESEARCH

Identification of Novel CELSR1 Mutations in Spina Bifida

(2014) Yunping Lei et al.   PLoS One

An Integrative Computational Approach for Prioritization of Genomic Variants

(2014) Inna Dubchak et al.   PLoS One

Geographic population structure analysis of worldwide human populations infers their biogeographical origins

(2014) Eran Elhaik et al.   Nature Communications

Assessing technical performance in differential gene expression experiments with external spike-in RNA control ratio mixtures

(2014) Sarah A. Munro et al.   Nature Communications

Reducing INDEL calling errors in whole genome and exome sequencing data

(2014) Han Fang et al.   Genome Medicine

Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants

(2013) Iuliana Ionita-Laza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

2012 Update on global prevention of folic acid-preventable spina bifida and anencephaly

(2013) Monica E. Youngblood et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

The GenoChip: A New Tool for Genetic Anthropology

(2013) Eran Elhaik et al.   Genome Biology and Evolution

Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia

(2013) D M Ruderfer et al.   MOLECULAR PSYCHIATRY

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

(2013) S Hong Lee et al.   NATURE GENETICS

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

(2013) Stephan Ripke et al.   NATURE GENETICS

Comparative annotation of functional regions in the human genome using epigenomic data

(2013) Kyoung-Jae Won et al.   NUCLEIC ACIDS RESEARCH

Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects

(2013) Xiaoli Chen et al.   PLoS One

Mutations in Planar Cell Polarity Gene SCRIB Are Associated with Spina Bifida

(2013) Yunping Lei et al.   PLoS One

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

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

Working towards a risk prediction model for neural tube defects

(2012) A.J. Agopian et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene

(2012) A. G. Bassuk et al.   HUMAN MOLECULAR GENETICS

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

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

(2012)   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

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

(2012) J. A. Tennessen et al.   SCIENCE

Brain Expression Genome-Wide Association Study (eGWAS) Identifies Human Disease-Associated Variants

(2012) Fanggeng Zou et al.   PLoS Genetics

An encyclopedia of mouse DNA elements (Mouse ENCODE)

(2012) et al.   GENOME BIOLOGY

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Folic acid supplementation can adversely affect murine neural tube closure and embryonic survival

(2011) Amber Marean et al.   HUMAN MOLECULAR GENETICS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

ENCODE whole-genome data in the UCSC Genome Browser: update 2012

(2011) K. R. Rosenbloom et al.   NUCLEIC ACIDS RESEARCH

Inference of Relationships in Population Data Using Identity-by-Descent and Identity-by-State

(2011) Eric L. Stevens et al.   PLoS Genetics

High-Resolution Detection of Identity by Descent in Unrelated Individuals

(2010) Sharon R. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

An update to the list of mouse mutants with neural tube closure defects and advances toward a complete genetic perspective of neural tube closure

(2010) Muriel J. Harris et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Contribution of VANGL2 mutations to isolated neural tube defects

(2010) Z Kibar et al.   CLINICAL GENETICS

Functional interactions between the LRP6 WNT co-receptor and folate supplementation

(2010) Jason D. Gray et al.   HUMAN MOLECULAR GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

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

(2009) Prateek Kumar et al.   Nature Protocols

Quantitative trait loci affecting phenotypic variation in the vacuolated lens mouse mutant, a multigenic mouse model of neural tube defects

(2008) Ron Korstanje et al.   PHYSIOLOGICAL GENOMICS