FamPipe: An Automatic Analysis Pipeline for Analyzing Sequencing Data in Families for Disease Studies

Genetic linkage analysis in the age of whole-genome sequencing

(2015) Jurg Ott et al.   NATURE REVIEWS GENETICS

Rare-Variant Association Analysis: Study Designs and Statistical Tests

(2014) Seunggeung Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders

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

Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives

(2014) Alexandre Bureau et al.   BIOINFORMATICS

Whole Exome Sequencing of Distant Relatives in Multiplex Families Implicates Rare Variants in Candidate Genes for Oral Clefts

(2014) A. Bureau et al.   GENETICS

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data

(2014) Hao Hu et al.   NATURE BIOTECHNOLOGY

Family-Based Association Test Using Both Common and Rare Variants and Accounting for Directions of Effects for Sequencing Data

(2014) Ren-Hua Chung et al.   PLoS One

VariantDB: a flexible annotation and filtering portal for next generation sequencing data

(2014) Geert Vandeweyer et al.   Genome Medicine

FamSeq: A Variant Calling Program for Family-Based Sequencing Data Using Graphics Processing Units

(2014) Gang Peng et al.   PLoS Computational Biology

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

(2014) Holly N Cukier et al.   Molecular Autism

GIGI: An Approach to Effective Imputation of Dense Genotypes on Large Pedigrees

(2013) Charles Y.K. Cheung et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A statistical variant calling approach from pedigree information and local haplotyping with phase informative reads

(2013) Kaname Kojima et al.   BIOINFORMATICS

A survey of tools for variant analysis of next-generation genome sequencing data

(2013) S. Pabinger et al.   BRIEFINGS IN BIOINFORMATICS

Power of Family-Based Association Designs to Detect Rare Variants in Large Pedigrees Using Imputed Genotypes

(2013) Mohamad Saad et al.   GENETIC EPIDEMIOLOGY

VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix

(2013) Hao Hu et al.   GENETIC EPIDEMIOLOGY

DeNovoGear: de novo indel and point mutation discovery and phasing

(2013) Avinash Ramu et al.   NATURE METHODS

Rare Variant Analysis for Family-Based Design

(2013) Gourab De et al.   PLoS One

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

(2013) Tom Kamphans et al.   PLoS One

Shared Genomic Segment Analysis: The Power to Find Rare Disease Variants

(2012) Stacey Knight et al.   ANNALS OF HUMAN GENETICS

Olorin: combining gene flow with exome sequencing in large family studies of complex disease

(2012) J. A. Morris et al.   BIOINFORMATICS

The role of large pedigrees in an era of high-throughput sequencing

(2012) Ellen M. Wijsman   HUMAN GENETICS

VAR-MD: A tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance

(2012) Murat Sincan et al.   HUMAN MUTATION

Finding Disease Variants in Mendelian Disorders By Using Sequence Data: Methods and Applications

(2011) Iuliana Ionita-Laza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools

(2011) F. A. San Lucas et al.   BIOINFORMATICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad 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

Small insertions and deletions (INDELs) in human genomes

(2010) J. M. Mullaney et al.   HUMAN MOLECULAR GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Generating linkage mapping files from Affymetrix SNP chip data

(2009) M. Bahlo et al.   BIOINFORMATICS

A Likelihood-Based Trait-Model-Free Approach for Linkage Detection of Binary Trait

(2009) S. Basu et al.   BIOMETRICS

A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic

(2009) Bo Eskerod Madsen et al.   PLoS Genetics

Exact Trait-Model-Free Tests for Linkage Detection in Pedigrees

(2008) S. Basu et al.   ANNALS OF HUMAN GENETICS

An approach for cutting large and complex pedigrees for linkage analysis

(2008) Fan Liu et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A multiple splitting approach to linkage analysis in large pedigrees identifies a linkage to asthma on chromosome 12

(2008) Céline Bellenguez et al.   GENETIC EPIDEMIOLOGY

Multilocus Lod Scores in Large Pedigrees: Combination of Exact and Approximate Calculations

(2007) Liping Tong et al.   HUMAN HEREDITY