Haplotype and missing data inference in nuclear families.

PubWeight™: 1.69‹?› | Rank: Top 3%

🔗 View Article (PMC 509272)

Published in Genome Res on July 15, 2004

Authors

Shin Lin1, Aravinda Chakravarti, David J Cutler

Author Affiliations

1: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland 21205, USA.

Associated clinical trials:

Family Blood Pressure Program - GenNet Network | NCT00005268

Articles citing this

Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet (2005) 14.09

A comparison of phasing algorithms for trios and unrelated individuals. Am J Hum Genet (2006) 12.45

Methods to impute missing genotypes for population data. Hum Genet (2007) 1.98

A comprehensive literature review of haplotyping software and methods for use with unrelated individuals. Hum Genomics (2005) 1.84

An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data. Genome Res (2013) 1.56

Assembly of a phased diploid Candida albicans genome facilitates allele-specific measurements and provides a simple model for repeat and indel structure. Genome Biol (2013) 1.04

Rapid haplotype inference for nuclear families. Genome Biol (2010) 1.03

A model-based approach to selection of tag SNPs. BMC Bioinformatics (2006) 0.92

Haplotyping methods for pedigrees. Hum Hered (2009) 0.90

Detecting genome wide haplotype sharing using SNP or microsatellite haplotype data. Hum Genet (2005) 0.86

Population genomics reveals the origin and asexual evolution of human infective trypanosomes. Elife (2016) 0.81

A haplotype inference algorithm for trios based on deterministic sampling. BMC Genet (2010) 0.77

A sequential Monte Carlo framework for haplotype inference in CNV/SNP genotype data. EURASIP J Bioinform Syst Biol (2014) 0.75

Inferring haplotypes and parental genotypes in larger full sib-ships and other pedigrees with missing or erroneous genotype data. BMC Genet (2012) 0.75

Articles cited by this

The future of genetic studies of complex human diseases. Science (1996) 64.76

A new statistical method for haplotype reconstruction from population data. Am J Hum Genet (2001) 59.30

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet (1993) 51.42

Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet (1996) 39.80

Generating samples under a Wright-Fisher neutral model of genetic variation. Bioinformatics (2002) 34.50

Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol (1995) 30.55

The sampling theory of selectively neutral alleles. Theor Popul Biol (1972) 27.35

A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet (2003) 26.59

Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet (2001) 22.46

Statistical properties of the number of recombination events in the history of a sample of DNA sequences. Genetics (1985) 20.92

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet (1996) 17.95

Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data. Genetics (2003) 17.73

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet (1999) 17.09

Inference of haplotypes from PCR-amplified samples of diploid populations. Mol Biol Evol (1990) 16.18

Detecting disease associations due to linkage disequilibrium using haplotype tags: a class of tests and the determinants of statistical power. Hum Hered (2003) 14.37

The new genomics: global views of biology. Science (1996) 10.77

Variations on a theme: cataloging human DNA sequence variation. Science (1997) 10.49

Bayesian haplotype inference for multiple linked single-nucleotide polymorphisms. Am J Hum Genet (2001) 10.48

Haplotype inference in random population samples. Am J Hum Genet (2002) 8.07

A DNA polymorphism discovery resource for research on human genetic variation. Genome Res (1998) 7.44

On measures of gametic disequilibrium. Genetics (1988) 7.16

A first-generation linkage disequilibrium map of human chromosome 22. Nature (2002) 7.03

Haplotypes vs single marker linkage disequilibrium tests: what do we gain? Eur J Hum Genet (2001) 5.41

High-throughput variation detection and genotyping using microarrays. Genome Res (2001) 5.24

On the advantage of haplotype analysis in the presence of multiple disease susceptibility alleles. Genet Epidemiol (2002) 5.17

Haplotype blocks and linkage disequilibrium in the human genome. Nat Rev Genet (2003) 5.16

Gametic phase estimation over large genomic regions using an adaptive window approach. Hum Genomics (2003) 4.63

Effect of allelic heterogeneity on the power of the transmission disequilibrium test. Genet Epidemiol (2000) 3.24

Experimentally-derived haplotypes substantially increase the efficiency of linkage disequilibrium studies. Nat Genet (2001) 3.20

Caution on pedigree haplotype inference with software that assumes linkage equilibrium. Am J Hum Genet (2002) 2.51

Transmission/disequilibrium tests using multiple tightly linked markers. Am J Hum Genet (2000) 2.45

Relative efficiency of ambiguous vs. directly measured haplotype frequencies. Genet Epidemiol (2002) 1.75

Monoallelic mutation analysis (MAMA) for identifying germline mutations. Nat Genet (1995) 1.68

Genetic analysis of complex diseases. Science (1997) 1.65

Haplotyping and estimation of haplotype frequencies for closely linked biallelic multilocus genetic phenotypes including nuclear family information. Hum Mutat (2001) 1.52

The sampling theory of neutral alleles and an urn model in population genetics. J Math Biol (1987) 1.41

Efficiency of haplotype frequency estimation when nuclear family information is included. Hum Hered (2002) 1.07

Nonparametric disequilibrium mapping of functional sites using haplotypes of multiple tightly linked single-nucleotide polymorphism markers. Genetics (2003) 0.97

Articles by these authors

A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39

Finding the missing heritability of complex diseases. Nature (2009) 67.95

Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71

A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet (2005) 18.98

Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27

Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet (2007) 14.99

Development of human protein reference database as an initial platform for approaching systems biology in humans. Genome Res (2003) 14.79

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25

Genome-wide association study of blood pressure and hypertension. Nat Genet (2009) 11.54

Microarray-based genomic selection for high-throughput resequencing. Nat Methods (2007) 9.62

Haplotype inference in random population samples. Am J Hum Genet (2002) 8.07

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02

A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet (2006) 6.39

Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies. Nat Genet (2004) 5.78

Synaptic, transcriptional and chromatin genes disrupted in autism. Nature (2014) 5.30

A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet (2008) 5.28

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature (2005) 4.92

A genome-wide linkage and association scan reveals novel loci for autism. Nature (2009) 4.76

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A (2005) 4.64

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet (2009) 4.28

Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet (2009) 4.10

Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet (2010) 3.97

Genomic alterations in cultured human embryonic stem cells. Nat Genet (2005) 3.89

Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat Genet (2009) 3.80

Genome-wide association study of PR interval. Nat Genet (2010) 3.73

Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet (2012) 3.71

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40

From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene. Proc Natl Acad Sci U S A (2008) 3.39

Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. PLoS Genet (2011) 3.07

Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07

Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92

Human embryonic stem cells have a unique epigenetic signature. Genome Res (2006) 2.89

A genome-wide linkage analysis investigating the determinants of blood pressure in whites and African Americans. Am J Hypertens (2003) 2.76

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet (2002) 2.74

Sequence variations in the public human genome data reflect a bottlenecked population history. Proc Natl Acad Sci U S A (2002) 2.70

Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. Circulation (2009) 2.55

The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection. Genome Res (2004) 2.54

Public stem cell banks: considerations of justice in stem cell research and therapy. Hastings Cent Rep (2004) 2.53

Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test. Am J Hum Genet (2003) 2.51

Tracking the evolution of the SARS coronavirus using high-throughput, high-density resequencing arrays. Genome Res (2004) 2.47

Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet (2010) 2.38

Multiple genes for essential-hypertension susceptibility on chromosome 1q. Am J Hum Genet (2006) 2.34

Differential susceptibility to hypertension is due to selection during the out-of-Africa expansion. PLoS Genet (2005) 2.33

Associations between genetic variants in the NOS1AP (CAPON) gene and cardiac repolarization in the old order Amish. Hum Hered (2007) 2.26

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet (2010) 2.12

A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Diabetes (2011) 2.09

A BDNF coding variant is associated with the NEO personality inventory domain neuroticism, a risk factor for depression. Neuropsychopharmacology (2002) 2.07

Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. PLoS Genet (2010) 1.91

Identifying allelic loss and homozygous deletions in pancreatic cancer without matched normals using high-density single-nucleotide polymorphism arrays. Cancer Res (2006) 1.89

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet (2003) 1.87

Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study. Hum Mol Genet (2011) 1.77

A multilevel model to address batch effects in copy number estimation using SNP arrays. Biostatistics (2010) 1.76

Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome. J Am Coll Cardiol (2010) 1.73

Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and patterns. Bioinformatics (2004) 1.72

Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis. Gastroenterology (2006) 1.71

Multiple loci are associated with white blood cell phenotypes. PLoS Genet (2011) 1.65

Microarray-based resequencing of multiple Bacillus anthracis isolates. Genome Biol (2004) 1.61

Validation and extension of an empirical Bayes method for SNP calling on Affymetrix microarrays. Genome Biol (2008) 1.61

Association of hypertension drug target genes with blood pressure and hypertension in 86,588 individuals. Hypertension (2011) 1.60

Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained. PLoS Genet (2013) 1.57

Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. Am J Hum Genet (2013) 1.55

Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium. Hum Mol Genet (2011) 1.54

Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer. Hum Mol Genet (2005) 1.48

Population bottlenecks as a potential major shaping force of human genome architecture. PLoS Genet (2007) 1.47

Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program. Eur J Hum Genet (2008) 1.45

Genomics in sudden cardiac death. Circ Res (2004) 1.42

Drug-sensitized zebrafish screen identifies multiple genes, including GINS3, as regulators of myocardial repolarization. Circulation (2009) 1.41

An oligonucleotide microarray for high-throughput sequencing of the mitochondrial genome. J Mol Diagn (2006) 1.40

Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals. PLoS Genet (2011) 1.38

SeqAnt: a web service to rapidly identify and annotate DNA sequence variations. BMC Bioinformatics (2010) 1.36

Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb. Proc Natl Acad Sci U S A (2003) 1.30

Aberrant gating of photic input to the suprachiasmatic circadian pacemaker of mice lacking the VPAC2 receptor. J Neurosci (2004) 1.30

Loci influencing blood pressure identified using a cardiovascular gene-centric array. Hum Mol Genet (2013) 1.27

A genome-wide scan for obesity in African-Americans. Diabetes (2002) 1.25

Positional identification of hypertension susceptibility genes on chromosome 2. Hypertension (2004) 1.25

Mendelian disorders and multifactorial traits: the big divide or one for all? Nat Rev Genet (2010) 1.24

Estimating genome-wide copy number using allele-specific mixture models. J Comput Biol (2008) 1.23

Simultaneous discovery and testing of deletions for disease association in SNP genotyping studies. Am J Hum Genet (2007) 1.23

Positional identification of variants of Adamts16 linked to inherited hypertension. Hum Mol Genet (2009) 1.21

Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration. PLoS One (2009) 1.19

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males. Am J Med Genet A (2010) 1.16

Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model. Dev Biol (2013) 1.15

Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. Eur J Hum Genet (2009) 1.14

Next-generation sequencing of human mitochondrial reference genomes uncovers high heteroplasmy frequency. PLoS Comput Biol (2012) 1.14

Linkage disequilibrium and haplotype diversity in the genes of the renin-angiotensin system: findings from the family blood pressure program. Genome Res (2003) 1.13

Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis. Hum Mol Genet (2008) 1.12

Future of genetics of mood disorders research. Biol Psychiatry (2002) 1.11