(Q22122017)

Dimensions Publication ID

Dimensions

22 September 2022

1

Lars Feuk

Lars

Feuk

1 reference

Dimensions Publication ID

Dimensions

22 September 2022

Andrew R. Carson

2

Andrew R.

Carson

1 reference

Dimensions Publication ID

Dimensions

1033454038

Initial sequencing and analysis of the human genome

22 September 2022

language of work or name

English

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publication date

February 2006

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published in

Nature Reviews Genetics

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volume

7

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issue

2

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page(s)

85-97

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cites work

1 reference

The Sequence of the Human Genome

31 March 2020

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Finishing the euchromatic sequence of the human genome

31 March 2020

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Adjusting the focus on human variation

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Human genome sequence variation and the influence of gene history, mutation and recombination

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The somatic chromosomes in mongolism

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A new trisomic syndrome

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Multiple congenital anomaly caused by an extra autosome

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Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause

31 March 2020

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Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding

31 March 2020

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Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases

31 March 2020

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Quantitative analysis of C-bands based on optical density profiles in human chromosomes

31 March 2020

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Giemsa-11 staining of chromosome 1: a newly described heteromorphism

31 March 2020

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The clinical significance of pericentric inversion of the human Y chromosome: a rare “third” type of heteromorphism

31 March 2020

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Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: a large prenatal study

31 March 2020

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Size and pericentric inversion heteromorphisms of secondary constriction regions (h) of chromosomes 1, 9, and 16 as detected by CBG technique in Caucasians: Classification, frequencies, and incidence

31 March 2020

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Variation is the spice of life

31 March 2020

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Whole-genome patterns of common DNA variation in three human populations

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A haplotype map of the human genome

31 March 2020

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Large-scale copy number polymorphism in the human genome

31 March 2020

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Detection of large-scale variation in the human genome

31 March 2020

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Fine-scale structural variation of the human genome

31 March 2020

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Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies

31 March 2020

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Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

31 March 2020

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Segmental duplications and copy-number variation in the human genome

31 March 2020

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A common inversion under selection in Europeans

31 March 2020

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Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion

31 March 2020

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Molecular mechanisms for genomic disorders

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SIZE VARIATION AND ORIENTATION OF THE HUMAN Y CHROMOSOME.

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Incidence of chromosome aberrations among 11 148 newborn children

31 March 2020

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Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance

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Heteromorphic variants of human chromosome 4

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Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements

31 March 2020

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Atlas of Human Chromosome Heteromorphisms

31 March 2020

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Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

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The new cytogenetics: blurring the boundaries with molecular biology

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BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications

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Identification of disease genes by whole genome CGH arrays

31 March 2020

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Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

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Genome-wide analysis of DNA copy-number changes using cDNA microarrays

31 March 2020

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Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA.

31 March 2020

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High-resolution global profiling of genomic alterations with long oligonucleotide microarray

31 March 2020

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An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays

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Real time quantitative PCR

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Novel approach to quantitative polymerase chain reaction using real-time detection: application to the detection of gene amplification in breast cancer

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Measurement of locus copy number by hybridisation with amplifiable probes

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DNA copy number analysis by MAPH: molecular diagnostic applications

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

31 March 2020

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Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

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High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

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Large-scale genotyping of complex DNA.

31 March 2020

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High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs

31 March 2020

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Whole genome DNA copy number changes identified by high density oligonucleotide arrays

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High-resolution analysis of DNA copy number using oligonucleotide microarrays

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Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays

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Genome-wide detection of allelic imbalance using human SNPs and high-density DNA arrays

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A rapid microarray based whole genome analysis for detection of uniparental disomy

31 March 2020

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Global analysis of uniparental disomy using high density genotyping arrays

31 March 2020

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Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions

31 March 2020

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31 March 2020

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Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome

31 March 2020

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Whole-genome shotgun assembly and comparison of human genome assemblies

31 March 2020

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Human chromosome 7: DNA sequence and biology

31 March 2020

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Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome

31 March 2020

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The DNA sequence of human chromosome 7

31 March 2020

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The human major histocompatability complex: lessons from the DNA sequence

31 March 2020

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Recent segmental duplications in the human genome

31 March 2020

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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

31 March 2020

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Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

31 March 2020

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An assessment of the sequence gaps: unfinished business in a finished human genome

31 March 2020

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A 9.1-kb Gap in the Genome Reference Map Is Shown to Be a Stable Deletion/Insertion Polymorphism of Ancestral Origin

31 March 2020

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Polymorphism of MHC class III genes: definition of restriction fragment linkage groups and evidence for frequent deletions and duplications

31 March 2020

1 reference

Interpretation of polymorphic DNA patterns in the human alpha-amylase multigene family

31 March 2020

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Polymorphically duplicated genes: their relevance to phenotypic variation in humans

31 March 2020

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Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster

31 March 2020

1 reference

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

31 March 2020

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Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

31 March 2020

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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

31 March 2020

1 reference

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

31 March 2020

1 reference

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

31 March 2020

1 reference

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

31 March 2020

1 reference

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

31 March 2020

1 reference

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

31 March 2020

1 reference

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

31 March 2020

1 reference

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

31 March 2020

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Megabase deletions of gene deserts result in viable mice

31 March 2020

1 reference

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

31 March 2020

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Presence of large deletions in kindreds with autism

31 March 2020

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The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

31 March 2020

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The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

31 March 2020

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Initial sequence of the chimpanzee genome and comparison with the human genome

31 March 2020

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A genome-wide comparison of recent chimpanzee and human segmental duplications

31 March 2020

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Optical mapping and its potential for large-scale sequencing projects

31 March 2020

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Common deletions and SNPs are in linkage disequilibrium in the human genome

31 March 2020

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A high-resolution survey of deletion polymorphism in the human genome

31 March 2020

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Common deletion polymorphisms in the human genome.

31 March 2020

1 reference

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations

31 March 2020

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Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

31 March 2020

1 reference

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

31 March 2020

1 reference

Frequency of new copy number variation in humans

31 March 2020

1 reference

A complex chromosomal rearrangement with formation of a ring 4

31 March 2020

1 reference