4.7 Review

The importance of phase information for human genomics

Related references

Note: Only part of the references are listed.
Editorial Material Biotechnology & Applied Microbiology

The next phase in human genetics

Vikas Bansal et al.

NATURE BIOTECHNOLOGY (2011)

Article Endocrinology & Metabolism

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

Sungdae Moon et al.

METABOLISM-CLINICAL AND EXPERIMENTAL (2011)

Article Genetics & Heredity

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

Benjamin Tycko

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Genetics & Heredity

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

Dandan Zhang et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Genetics & Heredity

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

Heather M. McLaughlin et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Biochemical Research Methods

Optimal algorithms for haplotype assembly from whole-genome sequence data

Dan He et al.

BIOINFORMATICS (2010)

Article Clinical Neurology

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

Choong Yi Fong et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)

Article Medicine, General & Internal

Clinical assessment incorporating a personal genome

Euan A. Ashley et al.

LANCET (2010)

Article Multidisciplinary Sciences

Transcriptome genetics using second generation sequencing in a Caucasian population

Stephen B. Montgomery et al.

NATURE (2010)

Article Multidisciplinary Sciences

Understanding mechanisms underlying human gene expression variation with RNA sequencing

Joseph K. Pickrell et al.

NATURE (2010)

Article Multidisciplinary Sciences

A map of human genome variation from population-scale sequencing

David Altshuler et al.

NATURE (2010)

Article Genetics & Heredity

Exome sequencing identifies the cause of a mendelian disorder

Sarah B. Ng et al.

NATURE GENETICS (2010)

Article Biochemical Research Methods

Direct determination of molecular haplotypes by chromosome microdissection

Li Ma et al.

NATURE METHODS (2010)

Letter Genetics & Heredity

Missing heritability: paternal age effect mutations and selfish spermatogonia

Anne Goriely et al.

NATURE REVIEWS GENETICS (2010)

Review Genetics & Heredity

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

Elizabeth T. Cirulli et al.

NATURE REVIEWS GENETICS (2010)

Editorial Material Medicine, General & Internal

Individual Genomes on the Horizon.

Richard P. Lifton

NEW ENGLAND JOURNAL OF MEDICINE (2010)

Article Medicine, General & Internal

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

James R. Lupski et al.

NEW ENGLAND JOURNAL OF MEDICINE (2010)

Article Multidisciplinary Sciences

Variation in Transcription Factor Binding Among Humans

Maya Kasowski et al.

SCIENCE (2010)

Article Multidisciplinary Sciences

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Richard J. L. F. Lemmers et al.

SCIENCE (2010)

Article Multidisciplinary Sciences

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

Jared C. Roach et al.

SCIENCE (2010)

Article Multidisciplinary Sciences

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

Ryan McDaniell et al.

SCIENCE (2010)

Article Multidisciplinary Sciences

A Draft Sequence of the Neandertal Genome

Richard E. Green et al.

SCIENCE (2010)

Article Rheumatology

Erratum

ARTHRITIS CARE & RESEARCH (2010)

Article Biochemistry & Molecular Biology

Rare Variants Create Synthetic Genome-Wide Associations

Samuel P. Dickson et al.

PLOS BIOLOGY (2010)

Article Biotechnology & Applied Microbiology

Rapid haplotype inference for nuclear families

Amy L. Williams et al.

GENOME BIOLOGY (2010)

Article Mathematical & Computational Biology

A Novel Algorithm for Minimum Recombinant Haplotyping on Pedigrees by Zero Recombinant Block Partition

Hai-Tao Jiang et al.

INTERDISCIPLINARY SCIENCES-COMPUTATIONAL LIFE SCIENCES (2010)

Editorial Material Clinical Neurology

Genome sequencing reveals Charcot-Marie-Tooth disease mutation

[Anonymous]

FUTURE NEUROLOGY (2010)

Review Genetics & Heredity

Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine

Tracy Tucker et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

Review Genetics & Heredity

Applications of New Sequencing Technologies for Transcriptome Analysis

Olena Morozova et al.

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS (2009)

Review Genetics & Heredity

Genotype Imputation

Yun Li et al.

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS (2009)

Article Genetics & Heredity

Haplotyping Methods for Pedigrees

Guimin Gao et al.

HUMAN HEREDITY (2009)

Review Medicine, General & Internal

Genomic copy number variation, human health, and disease

Louise V. Wain et al.

LANCET (2009)

Article Biochemistry & Molecular Biology

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

B. S. Pickard et al.

MOLECULAR PSYCHIATRY (2009)

Article Multidisciplinary Sciences

Parental origin of sequence variants associated with complex diseases

Augustine Kong et al.

NATURE (2009)

Review Genetics & Heredity

Human genetic variation and its contribution to complex traits

Kelly A. Frazer et al.

NATURE REVIEWS GENETICS (2009)

Review Genetics & Heredity

ChIP-seq: advantages and challenges of a maturing technology

Peter J. Park

NATURE REVIEWS GENETICS (2009)

Article Biochemical Research Methods

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

Vikas Bansal et al.

BIOINFORMATICS (2008)

Article Biochemical Research Methods

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

Olivier Delaneau et al.

BMC BIOINFORMATICS (2008)

Article Biochemistry & Molecular Biology

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

Vikas Bansal et al.

GENOME RESEARCH (2008)

Article Endocrinology & Metabolism

Dominant versus recessive: Molecular mechanisms in metabolic disease

Johannes Zschocke

JOURNAL OF INHERITED METABOLIC DISEASE (2008)

Article Genetics & Heredity

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

Augustine Kong et al.

NATURE GENETICS (2008)

Article Genetics & Heredity

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

Robert R. Graham et al.

NATURE GENETICS (2008)

Article Biotechnology & Applied Microbiology

MDR1 diplotypes as prognostic markers in multiple myeloma

Valentina Maggini et al.

PHARMACOGENETICS AND GENOMICS (2008)

Article Multidisciplinary Sciences

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

Rebecca J. Leary et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Article Multidisciplinary Sciences

Widespread monoallelic expression on human autosomes

Alexander Gimelbrant et al.

SCIENCE (2007)

Article Oncology

ATM sequence variants associate with susceptibility to non-small cell lung cancer

Hushan Yang et al.

INTERNATIONAL JOURNAL OF CANCER (2007)

Article Genetics & Heredity

Understanding the accuracy of statistical haplotype inference with sequence data of known phase

Aida M. Andres et al.

GENETIC EPIDEMIOLOGY (2007)

Article Multidisciplinary Sciences

A second generation human haplotype map of over 3.1 million SNPs

Kelly A. Frazer et al.

NATURE (2007)

Review Biochemistry & Molecular Biology

The diploid genome sequence of an individual human

Samuel Levy et al.

PLOS BIOLOGY (2007)

Review Genetics & Heredity

Compound heterozygosity for dominant and recessive GJB2 mutations:: Effect on phenotype and review of the literature

Katherine O. Welch et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

Article Biochemistry & Molecular Biology

Diploid genome reconstruction of Ciona intestinalis and comparative analysis with Ciona savignyi

Jong Hyun Kim et al.

GENOME RESEARCH (2007)

Article Multidisciplinary Sciences

Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus

Robert R. Graham et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Genetics & Heredity

Generalized analysis of molecular variance

Caroline M. Nievergelt et al.

PLOS GENETICS (2007)

Article Biochemical Research Methods

HaploRec: efficient and accurate large-scale reconstruction of haplotypes

Lauri Eronen et al.

BMC BIOINFORMATICS (2006)

Article Oncology

FANCD2 associated with sporadic breast cancer risk

E. Barroso et al.

CARCINOGENESIS (2006)

Letter Genetics & Heredity

Allegro version 2

DF Gudbjartsson et al.

NATURE GENETICS (2005)

Article Biochemical Research Methods

Single-molecule dilution and multiple displacement amplification for molecular haplotyping

P Paul et al.

BIOTECHNIQUES (2005)

Article Genetics & Heredity

Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations

T Dörk et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)

Article Biochemical Research Methods

Haplotype reconstruction from genotype data using Imperfect Phylogeny

E Halperin et al.

BIOINFORMATICS (2004)

Article Genetics & Heredity

Merlin-rapid analysis of dense genetic maps using sparse gene flow trees

GR Abecasis et al.

NATURE GENETICS (2002)

Article Genetics & Heredity

A new statistical method for haplotype reconstruction from population data

M Stephens et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2001)

Article Multidisciplinary Sciences

Complex promoter and coding region β2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness

CM Drysdale et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)