The importance of phase information for human genomics (Q37120242)

18 August 2017

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title

The importance of phase information for human genomics (English)

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18 August 2017

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4

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18 August 2017

5

Nicholas J Schork

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18 August 2017

3

Ali Torkamani

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18 August 2017

Ryan Tewhey

1

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PMCID

3753045

18 August 2017

Vikas Bansal

series ordinal

2

1 reference

18 August 2017

8 February 2011

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18 August 2017

Nature Reviews Genetics

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18 August 2017

12

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18 August 2017

215-223

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18 August 2017

3

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https://scigraph.springernature.com/pub.10.1038/nrg2950

18 August 2017

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14 September 2017

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14 September 2017

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Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

14 September 2017

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A unifying genetic model for facioscapulohumeral muscular dystrophy

14 September 2017

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Optimal algorithms for haplotype assembly from whole-genome sequence data

14 September 2017

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

14 September 2017

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A Draft Sequence of the Neandertal Genome

14 September 2017

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Clinical assessment incorporating a personal genome

14 September 2017

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Direct determination of molecular haplotypes by chromosome microdissection.

14 September 2017

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Heritable individual-specific and allele-specific chromatin signatures in humans

14 September 2017

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Variation in transcription factor binding among humans

14 September 2017

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Understanding mechanisms underlying human gene expression variation with RNA sequencing

14 September 2017

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Transcriptome genetics using second generation sequencing in a Caucasian population

14 September 2017

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

14 September 2017

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Analysis of genetic inheritance in a family quartet by whole-genome sequencing

14 September 2017

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Genetic control of individual differences in gene-specific methylation in human brain.

14 September 2017

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Mapping allele-specific DNA methylation: a new tool for maximizing information from GWAS.

14 September 2017

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Rare variants create synthetic genome-wide associations

14 September 2017

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

14 September 2017

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Assessment of genotype imputation methods

14 September 2017

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Parental origin of sequence variants associated with complex diseases

14 September 2017

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Exome sequencing identifies the cause of a mendelian disorder

14 September 2017

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ChIP-seq: advantages and challenges of a maturing technology

14 September 2017

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

14 September 2017

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14 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Applications of new sequencing technologies for transcriptome analysis.

14 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Massively parallel sequencing: the next big thing in genetic medicine

14 September 2017

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Genomic copy number variation, human health, and disease

14 September 2017

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Human genetic variation and its contribution to complex traits

14 September 2017

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A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals

14 September 2017

1 reference

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Haplotyping methods for pedigrees

14 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

14 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Dominant versus recessive: molecular mechanisms in metabolic disease

14 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

A second generation human haplotype map of over 3.1 million SNPs

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

The diploid genome sequence of an individual human

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Generalized analysis of molecular variance

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

HaploRec: efficient and accurate large-scale reconstruction of haplotypes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

TAR cloning: insights into gene function, long-range haplotypes and genome structure and evolution

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Single nucleotide polymorphisms in the human interleukin-1B gene affect transcription according to haplotype context.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

A comprehensive literature review of haplotyping software and methods for use with unrelated individuals

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Haplotype reconstruction from genotype data using Imperfect Phylogeny

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Both rare and common polymorphisms contribute functional variation at CHGA, a regulator of catecholamine physiology

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Two genetic hits (more or less) to cancer

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

A New Statistical Method for Haplotype Reconstruction from Population Data

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Exclusive paternal origin of new mutations in Apert syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Construction of multilocus genetic linkage maps in humans

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Widespread monoallelic expression on human autosomes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

A Japanese patient with familial Mediterranean fever associated with compound heterozygosity for pyrin variant E148Q/M694I.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

The association of a nonsynonymous single-nucleotide polymorphism in TNFAIP3 with systemic lupus erythematosus and rheumatoid arthritis in the Japanese population

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Single-molecule dilution and multiple displacement amplification for molecular haplotyping.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Partition-ligation-expectation-maximization algorithm for haplotype inference with single-nucleotide polymorphisms

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

The next phase in human genetics

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

Missing heritability: paternal age effect mutations and selfish spermatogonia

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753045

FANCD2 associated with sporadic breast cancer risk

3 September 2018

1 reference

21 January 2018

1 reference

Individual genomes on the horizon

21 January 2018

1 reference

Compound heterozygotes for hemochromatosis gene mutations: may they help to understand the pathophysiology of the disease?

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Role of AMP-activated protein kinase gamma 3 genetic variability in glucose and lipid metabolism in non-diabetic whites

31 March 2020

1 reference

MDR1 diplotypes as prognostic markers in multiple myeloma

31 March 2020

1 reference

31 March 2020

Identifiers

DOI

10.1038/NRG2950

1 reference

18 August 2017

1 reference

18 August 2017

1 reference

PMCID

3753045