The importance of phase information for human genomics

The next phase in human genetics

(2011) Vikas Bansal et al.   NATURE BIOTECHNOLOGY

Mapping Allele-Specific DNA Methylation: A New Tool for Maximizing Information from GWAS

(2010) Benjamin Tycko   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Control of Individual Differences in Gene-Specific Methylation in Human Brain

(2010) Dandan Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

(2010) Heather M. McLaughlin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Optimal algorithms for haplotype assembly from whole-genome sequence data

(2010) D. He et al.   BIOINFORMATICS

Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C

(2010) CHOONG YI FONG et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Clinical assessment incorporating a personal genome

(2010) Euan A Ashley et al.   LANCET

Novel compound heterozygous mutations in the fructose-1,6-bisphosphatase gene cause hypoglycemia and lactic acidosis

(2010) Sungdae Moon et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Transcriptome genetics using second generation sequencing in a Caucasian population

(2010) Stephen B. Montgomery et al.   NATURE

Understanding mechanisms underlying human gene expression variation with RNA sequencing

(2010) Joseph K. Pickrell et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Direct determination of molecular haplotypes by chromosome microdissection

(2010) Li Ma et al.   NATURE METHODS

Missing heritability: paternal age effect mutations and selfish spermatogonia

(2010) Anne Goriely et al.   NATURE REVIEWS GENETICS

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

Individual Genomes on the Horizon

(2010) Richard P. Lifton   NEW ENGLAND JOURNAL OF MEDICINE

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Variation in Transcription Factor Binding Among Humans

(2010) M. Kasowski et al.   SCIENCE

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

(2010) R. J. L. F. Lemmers et al.   SCIENCE

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

(2010) J. C. Roach et al.   SCIENCE

Heritable Individual-Specific and Allele-Specific Chromatin Signatures in Humans

(2010) R. McDaniell et al.   SCIENCE

A Draft Sequence of the Neandertal Genome

(2010) R. E. Green et al.   SCIENCE

A Bayesian Method for Detecting and Characterizing Allelic Heterogeneity and Boosting Signals in Genome-Wide Association Studies

(2010) Zhan Su et al.   STATISTICAL SCIENCE

Erratum

(2010)   ARTHRITIS CARE & RESEARCH

Rare Variants Create Synthetic Genome-Wide Associations

(2010) Samuel P. Dickson et al.   PLOS BIOLOGY

Rapid haplotype inference for nuclear families

(2010) Amy L Williams et al.   GENOME BIOLOGY

A novel algorithm for minimum recombinant haplotyping on pedigrees by zero recombinant block partition

(2010) Hai-Tao Jiang et al.   Interdisciplinary Sciences-Computational Life Sciences

Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine

(2009) Tracy Tucker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals

(2009) Brian L. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Applications of New Sequencing Technologies for Transcriptome Analysis

(2009) Olena Morozova et al.   Annual Review of Genomics and Human Genetics

Genotype Imputation

(2009) Yun Li et al.   Annual Review of Genomics and Human Genetics

Haplotyping Methods for Pedigrees

(2009) Guimin Gao et al.   HUMAN HEREDITY

Silent exonic mutation in the acid-α-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing

(2009) Mireguli Maimaiti et al.   JOURNAL OF HUMAN GENETICS

Genomic copy number variation, human health, and disease

(2009) Louise V Wain et al.   LANCET

Parental origin of sequence variants associated with complex diseases

(2009) Augustine Kong et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Personalized copy number and segmental duplication maps using next-generation sequencing

(2009) Can Alkan et al.   NATURE GENETICS

Human genetic variation and its contribution to complex traits

(2009) Kelly A. Frazer et al.   NATURE REVIEWS GENETICS

ChIP–seq: advantages and challenges of a maturing technology

(2009) Peter J. Park   NATURE REVIEWS GENETICS

Compound heterozygous mutation with a novel splice donor region DNA sequence variant in the succinate dehydrogenase subunit B gene in malignant paraganglioma

(2009) Suvankar Majumdar et al.   PEDIATRIC BLOOD & CANCER

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

(2008) V. Bansal et al.   BIOINFORMATICS

Shape-IT: new rapid and accurate algorithm for haplotype inference

(2008) Olivier Delaneau et al.   BMC BIOINFORMATICS

The association of adiponectin allele 45T/G and −11377C/G polymorphisms with Type 2 diabetes and rosiglitazone response in Chinese patients

(2008) Hong Sun et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

An MCMC algorithm for haplotype assembly from whole-genome sequence data

(2008) V. Bansal et al.   GENOME RESEARCH

Missing data imputation and haplotype phase inference for genome-wide association studies

(2008) Sharon R. Browning   HUMAN GENETICS

A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia

(2008) Atsushi Miyake et al.   JOURNAL OF HUMAN GENETICS

Dominant versus recessive: Molecular mechanisms in metabolic disease

(2008) Johannes Zschocke   JOURNAL OF INHERITED METABOLIC DISEASE

Interacting haplotypes at the NPAS3 locus alter risk of schizophrenia and bipolar disorder

(2008) B S Pickard et al.   MOLECULAR PSYCHIATRY

Detection of sharing by descent, long-range phasing and haplotype imputation

(2008) Augustine Kong et al.   NATURE GENETICS

Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci

(2008) John B Harley et al.   NATURE GENETICS

Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus

(2008) Robert R Graham et al.   NATURE GENETICS

Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus

(2008) Stacy L Musone et al.   NATURE GENETICS

MDR1 diplotypes as prognostic markers in multiple myeloma

(2008) Valentina Maggini et al.   Pharmacogenetics and Genomics

Integrated analysis of homozygous deletions, focal amplifications, and sequence alterations in breast and colorectal cancers

(2008) R. J. Leary et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA