L. Hillier

Publications130
h-index73
Citations54,982
Highly Influential Citations2,224
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Initial sequencing and analysis of the human genome.
TLDR
The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence.
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.
TLDR
A comprehensive search for conserved elements in vertebrate genomes is conducted, using genome-wide multiple alignments of five vertebrate species (human, mouse, rat, chicken, and Fugu rubripes), using a two-state phylogenetic hidden Markov model (phylo-HMM).
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
TLDR
The male-specific region of the Y chromosome, the MSY, differentiates the sexes and comprises 95% of the chromosome's length, and is a mosaic of heterochromatic sequences and three classes of euchromatics sequences: X-transposed, X-degenerate and ampliconic.
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
TLDR
This high-density SNP map provides a public resource for defining haplotype variation across the genome, and should help to identify biomedically important genes for diagnosis and therapy.
Evolution of genes and genomes on the Drosophila phylogeny
TLDR
These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution.
The Genome Sequence of Caenorhabditis briggsae: A Platform for Comparative Genomics
TLDR
Comparisons of the two genomes exhibit extensive colinearity, and the rate of divergence appears to be higher in the chromosomal arms than in the centers, which will help to understand the evolutionary forces that mold nematode genomes.
Population Genomics: Whole-Genome Analysis of Polymorphism and Divergence in Drosophila simulans
TLDR
A population genetic analysis of Drosophila simulans is presented based on whole-genome shotgun sequencing of multiple inbred lines and comparison of the resulting data to genome assemblies of the closely related species, D. melanogaster and D. yakuba, to suggest several new hypotheses regarding the genetic and biological mechanisms controlling polymorphism and divergence across the Drosophile genome.
The genome of a songbird
TLDR
This work shows that song behaviour engages gene regulatory networks in the zebra finch brain, altering the expression of long non-coding RNAs, microRNAs, transcription factors and their targets and shows evidence for rapid molecular evolution in the songbird lineage of genes that are regulated during song experience.
The DNA sequence of the human X chromosome
TLDR
This analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome.
Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution
TLDR
A draft genome sequence of the red jungle fowl, Gallus gallus, provides a new perspective on vertebrate genome evolution, while also improving the annotation of mammalian genomes.
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