Using familial information for variant filtering in high-throughput sequencing studies

Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders

(2014) Daniel C. Koboldt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

FSuite: exploiting inbreeding in dense SNP chip and exome data

(2014) Steven Gazal et al.   BIOINFORMATICS

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1

(2014) Stefanie Eggers et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

(2014) F. A. Santoni et al.   GENOME RESEARCH

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children

(2014) Ivan S. Ivanov et al.   MOLECULAR GENETICS AND METABOLISM

Investigating and Correcting Plasma DNA Sequencing Coverage Bias to Enhance Aneuploidy Discovery

(2014) Dineika Chandrananda et al.   PLoS One

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

(2013) Ryan J. Taft et al.   AMERICAN JOURNAL OF HUMAN 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

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Haplotype Estimation Using Sequencing Reads

(2013) Olivier Delaneau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MATE-CLEVER: Mendelian-inheritance-aware discovery and genotyping of midsize and long indels

(2013) Tobias Marschall et al.   BIOINFORMATICS

Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders

(2013) Seung Tae Baek et al.   CURRENT OPINION IN NEUROLOGY

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

(2013) K. R. Smith et al.   HUMAN MOLECULAR GENETICS

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease

(2013) Jacob Gratten et al.   NATURE GENETICS

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

(2013) Elaine T. Lim et al.   NEURON

Rare variant detection using family-based sequencing analysis

(2013) G. Peng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Challenges of diagnostic exome sequencing in an inbred founder population

(2013) Dimitar N. Azmanov et al.   Molecular Genetics & Genomic Medicine

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

(2012) Velina Guergueltcheva et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

(2012) Katherine R. Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identity by Descent Between Distant Relatives: Detection and Applications

(2012) Sharon R. Browning et al.   Annual Review of Genetics

A beginners guide to SNP calling from high-throughput DNA-sequencing data

(2012) André Altmann et al.   HUMAN GENETICS

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1

(2012) Barak Markus et al.   HUMAN MUTATION

HapCompass: A Fast Cycle Basis Algorithm for Accurate Haplotype Assembly of Sequence Data

(2012) Derek Aguiar et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

(2012) Robert K Koenekoop et al.   NATURE GENETICS

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

(2012) Sarah E Heron et al.   NATURE GENETICS

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

A Likelihood-Based Framework for Variant Calling and De Novo Mutation Detection in Families

(2012) Bingshan Li et al.   PLoS Genetics

A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia

(2011) Mark A. Corbett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders

(2011) C. Rodelsperger et al.   BIOINFORMATICS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

(2011) Katherine R Smith et al.   GENOME BIOLOGY

A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

(2010) Mark A. Corbett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Challenges of sequencing human genomes

(2010) D. C. Koboldt et al.   BRIEFINGS IN BIOINFORMATICS

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

(2010) Peter M Krawitz et al.   NATURE GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

Generating linkage mapping files from Affymetrix SNP chip data

(2009) M. Bahlo et al.   BIOINFORMATICS

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

(2009) K. Ye et al.   BIOINFORMATICS

Mutations in PYCR1 cause cutis laxa with progeroid features

(2009) Bruno Reversade et al.   NATURE GENETICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

(2009) Ken Chen et al.   NATURE METHODS

HapCUT: an efficient and accurate algorithm for the haplotype assembly problem

(2008) V. Bansal et al.   BIOINFORMATICS

Relatedness mapping and tracts of relatedness for genome-wide data in the presence of linkage disequilibrium

(2008) Anders Albrechtsen et al.   GENETIC EPIDEMIOLOGY

Substantial biases in ultra-short read data sets from high-throughput DNA sequencing

(2008) J. C. Dohm et al.   NUCLEIC ACIDS RESEARCH