[HTML][HTML] Accurate whole human genome sequencing using reversible terminator chemistry
…, DJ Ellis, MR Flatbush, NA Gormley, SJ Humphray… - nature, 2008 - nature.com
DNA sequence information underpins genetic research, enabling discoveries of important
biological or medical benefit. Sequencing projects have traditionally used long (400–800 …
biological or medical benefit. Sequencing projects have traditionally used long (400–800 …
[HTML][HTML] Analyses of pig genomes provide insight into porcine demography and evolution
For 10,000 years pigs and humans have shared a close and complex relationship. From
domestication to modern breeding practices, humans have shaped the genomes of domestic …
domestication to modern breeding practices, humans have shaped the genomes of domestic …
[HTML][HTML] A comprehensive catalogue of somatic mutations from a human cancer genome
…, PJ Stephens, DJ McBride, SJ Humphray… - Nature, 2010 - nature.com
All cancers carry somatic mutations. A subset of these somatic alterations, termed driver
mutations, confer selective growth advantage and are implicated in cancer development, …
mutations, confer selective growth advantage and are implicated in cancer development, …
[HTML][HTML] The Medicago genome provides insight into the evolution of rhizobial symbioses
Legumes (Fabaceae or Leguminosae) are unique among cultivated plants for their ability to
carry out endosymbiotic nitrogen fixation with rhizobial bacteria, a process that takes place …
carry out endosymbiotic nitrogen fixation with rhizobial bacteria, a process that takes place …
The DNA sequence and analysis of human chromosome 6
…, KL Howe, GR Howell, E Huckle, SJ Humphray… - Nature, 2003 - nature.com
Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human
genome. The finished sequence comprises 166,880,988 base pairs, representing the largest …
genome. The finished sequence comprises 166,880,988 base pairs, representing the largest …
A physical map of the human genome.
…, WB Barbazuk, SG Gregory, SJ Humphray… - Nature, 2001 - go.gale.com
The International Human Genome Sequencing Consortium (IHGSC) used a hierarchical
mapping and sequencing strategy to construct the working draft of the human genome. This …
mapping and sequencing strategy to construct the working draft of the human genome. This …
Protein phosphorylation: a major switch mechanism for metabolic regulation
Metabolism research is undergoing a renaissance because many diseases are increasingly
recognized as being characterized by perturbations in intracellular metabolic regulation. …
recognized as being characterized by perturbations in intracellular metabolic regulation. …
A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree
Improvement of variant calling in next-generation sequence data requires a comprehensive,
genome-wide catalog of high-confidence variants called in a set of genomes for use as a …
genome-wide catalog of high-confidence variants called in a set of genomes for use as a …
Legume genome evolution viewed through the Medicago truncatula and Lotus japonicus genomes
…, C Nicholson, SJ Humphray… - Proceedings of the …, 2006 - National Acad Sciences
Genome sequencing of the model legumes, Medicago truncatula and Lotus japonicus, provides
an opportunity for large-scale sequence-based comparison of two genomes in the same …
an opportunity for large-scale sequence-based comparison of two genomes in the same …
Detection of long repeat expansions from PCR-free whole-genome sequence data
…, NH Johnson, Z Kingsbury, SJ Humphray… - Genome …, 2017 - genome.cshlp.org
Identifying large expansions of short tandem repeats (STRs), such as those that cause
amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-…
amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-…