[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 …

[HTML][HTML] Analyses of pig genomes provide insight into porcine demography and evolution

…, JL Harrow, A Hayward, K Howe, ZL Hu, SJ Humphray… - Nature, 2012 - nature.com
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 …

[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, …

[HTML][HTML] The Medicago genome provides insight into the evolution of rhizobial symbioses

…, PJ Green, A Hallab, M Hartog, A Hua, SJ Humphray… - nature, 2011 - nature.com
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 …

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 …

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 …

Protein phosphorylation: a major switch mechanism for metabolic regulation

SJ Humphrey, DE James, M Mann - Trends in Endocrinology & Metabolism, 2015 - cell.com
Metabolism research is undergoing a renaissance because many diseases are increasingly
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

…, Z Iqbal, HY Chuang, SJ Humphray… - Genome …, 2017 - genome.cshlp.org
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 …

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 …

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-…