Efficient Control of Population Structure in Model Organism Association Mapping

Hyun Min Kang, Noah Zaitlen, Claire M. Wade, +4

Genetics

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

Benjamin M. Neale, Yan Kou, Li Liu, +56

Nature

Neurodevelopmental DisordersAutism Spectrum DisordersSyndromic AutismGeneticsGenetic Disorder +6

A framework for the interpretation of de novo mutation in human disease

Kaitlin E. Samocha, Elise Robinson, Stephan Sanders, +23

Nature Genetics

Somatic VariantGenetic DisorderMedicineGeneticsHuman Disease +5

Integrated detection and population-genetic analysis of SNPs and copy number variation

Steven A. McCarroll, Finny G. Kuruvilla, Joshua M. Korn, +23

Nature Genetics

Genetic AnalysisAllelic VariantHaplotype DeterminationMedicineGenetics +9

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

Manuel A. Rivas, Mélissa Beaudoin, Agnès Gardet, +33

Nature Genetics

Genome-wide Association StudyMedicineGeneticsImmunologyGenetic Epidemiology +6

Whole-genome association study of bipolar disorder

Pamela Sklar, Jordan W. Smoller, Jinbo Fan, +34

Molecular Psychiatry

Genome-wide Association StudyPsychiatryGeneticsPsychiatric GeneticsGenetic Epidemiology +2

Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families

Melanie M. Mahtani, Elisabeth Widén, Markku Lehto, +18

Nature Genetics

Genetic DeterminantGeneticsDiabetesGenetic EpidemiologyType 2 +10

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Andrew Kirby, Andreas Gnirke, David B. Jaffe, +39

Nature Genetics

A High-Density Screen for Linkage in Multiple Sclerosis

Stephen Sawcer, Maria Ban, Mel Maranian, +32

The American Journal of Human Genetics

Neurological DisorderNeuroimagingNeurologyMultiple SclerosisMedicine

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

Elaine T. Lim, Soumya Raychaudhuri, Stephan Sanders, +37

Neuron

Rare Complete KnockoutsAutism Spectrum DisordersSyndromic AutismPopulation DistributionAutism +3