Featured
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Comment |
Bring clinical standards to human-genetics research
Study protocols need to be rigorous, because more than science is at stake. Sometimes participants' lives depend on the results, writes Gholson J. Lyon.
- Gholson J. Lyon
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News |
Sequencing set to alter clinical landscape
Access to whole genomes shifts potential for diagnosis, but poses challenges for doctors and regulators.
- Erika Check Hayden
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Technology Feature |
The changes that count
As more mutations are found across the genome, geneticists are focusing on learning which ones are likely to cause human disease, and how.
- Monya Baker
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News |
Drug bests cystic-fibrosis mutation
First treatment to tackle protein behind the disease wins approval — but only a small fraction of patients will benefit.
- Heidi Ledford
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Research Highlights |
An eye for gene repair
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News |
UK sets sights on gene therapy in eggs
Public consultation and safety assessment would pave the way for embryo manipulation to treat genetic diseases.
- Ewen Callaway
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News & Views |
Reprogramming clinical outcome
On binding to its target hormone, the oestrogen-receptor protein modulates the expression of many genes. Changes in the receptor's interaction with DNA have now been linked to clinical outcome in patients with breast cancer. See Letter p.389
- Geneviève Deblois
- & Vincent Giguère
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Article
| Open Access
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia
This work shows that treatments used for acute myeloid leukaemia and targeted therapies could be used for early T-cell precursor acute lymphoblastic leukaemia.
- Jinghui Zhang
- , Li Ding
- & Charles G. Mullighan
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Research Highlights |
Sisterhood of lymphoma
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News |
A wake-up call for dormant genes
Anti-cancer drug holds potential as a treatment for genetic-imprinting disorder.
- Rebecca Hill
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Outlook |
Genetics: Profiling a shape-shifter
Unlocking the genetic secrets of multiple myeloma could reveal new ways to attack this killer disease.
- Courtney Humphries
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Outlook |
Atopy: Marching with allergies
They come not single spies, but in battalions. The latest research helps explain why an individual may experience the 'atopic march' from one allergic disorder to another.
- Paige Brown
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News |
Sickle-cell mystery solved
Researchers discover how carriers of the sickle-cell anaemia gene are protected from malaria.
- Meredith Wadman
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News |
More clues in the genetics of schizophrenia
Chinese researchers add three chromosomal regions to a slow-growing list of genetic links.
- David Cyranoski
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Article
| Open Access
A high-resolution map of human evolutionary constraint using 29 mammals
- Kerstin Lindblad-Toh
- , Manuel Garber
- & Manolis Kellis
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Letter |
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy
- Mariko Taniguchi-Ikeda
- , Kazuhiro Kobayashi
- & Tatsushi Toda
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Letter |
Sequence-based characterization of structural variation in the mouse genome
- Binnaz Yalcin
- , Kim Wong
- & Jonathan Flint
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Letter |
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
- Georg B. Ehret
- , Patricia B. Munroe
- & Toby Johnson
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Letter |
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
- Sébastien Jacquemont
- , Alexandre Reymond
- & Philippe Froguel
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Letter |
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
- Han-Xiang Deng
- , Wenjie Chen
- & Teepu Siddique
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News |
Lessons about Alzheimer's disease
Psychologist Margaret Gatz explains what 25 years of research have taught her about reducing the risk of dementia.
- Gwyneth Dickey Zakaib
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Comment |
Growth of genome screening needs debate
There could be unexpected consequences if greater understanding of disease genetics gives parents more choice in what they pass to their children, says David B. Goldstein.
- David B. Goldstein
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News |
Chinese depression survey holds surprises
Parenting style and level of education have different impact than in the West.
- David Cyranoski
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Research Highlights |
Customer data aid Parkinson's study
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News |
How to build a better mouse
The Collaborative Cross project will boost diversity and help the hunt for disease genes.
- Ewen Callaway
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Outlook |
Genetics: Finding risk factors
Uncovering genes that are linked with Alzheimer's disease can help researchers understand what causes the disease. But it's not easy.
- Michael Eisenstein
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Article |
Crystal structure of a copper-transporting PIB-type ATPase
- Pontus Gourdon
- , Xiang-Yu Liu
- & Poul Nissen
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News |
Software pinpoints cause of mystery genetic disorder
Genome analysis tools speedily track down previously unknown mutation.
- Brendan Maher
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News |
Genome study solves twins' mystery condition
Sequencing ends years of speculation over children's rare disorder.
- Erika Check Hayden
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News |
Autism linked to hundreds of spontaneous genetic mutations
Analysis suggests that girls are partially shielded from effects of the changes.
- Heidi Ledford
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Research Highlights |
Genetics of malaria severity
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Letter |
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells
- Luis F. Z. Batista
- , Matthew F. Pech
- & Steven E. Artandi
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Research Highlights |
A search for depression genes
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Review Article |
Lessons on the pathogenesis of aneurysm from heritable conditions
- Mark E. Lindsay
- & Harry C. Dietz
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Letter |
Reprogramming transcription by distinct classes of enhancers functionally defined by eRNA
- Dong Wang
- , Ivan Garcia-Bassets
- & Xiang-Dong Fu
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News |
Schizophrenia 'in a dish'
Researchers are making inroads in the daunting challenge of modelling mental illness, thanks to patients' cells.
- Ewen Callaway
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News & Views |
Zooming in on a gene
Genome-wide association studies are often criticized for providing little insight of immediate physiological relevance. The finding of one such study, which implicates a signalling molecule in schizophrenia, is welcome news. See Letter p.499
- Hugh D. Piggins
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Article |
Mapping and analysis of chromatin state dynamics in nine human cell types
- Jason Ernst
- , Pouya Kheradpour
- & Bradley E. Bernstein
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Letter |
Aberrant chromosome morphology in human cells defective for Holliday junction resolution
Exchange of sister chromatids to form four-stranded Holliday junctions occurs naturally during meiosis, to hold sister chromatids together, and during various repair events. In eukaryotes, double Holliday junctions that escape dissolution by a helicase/topoisomerase (BTR) complex are instead processed by one of several nucleases known as resolvases. This study defines the activities of the GEN1, MUS81-EME1 and SLX1-SLX4 resolvases in the absence of BLM, the helicase component of BTR that is mutated in Bloom's syndrome.
- Thomas Wechsler
- , Scott Newman
- & Stephen C. West
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Letter |
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
Substantial risk for schizophrenia is conferred by large copy number variants at a number of genomic loci. Here, a significant association between duplications on chromosome 7 and schizophrenia is reported. Importantly, microduplication analysis narrowed down the region to a region just upstream of a gene encoding vasoactive intestinal peptide receptor (VIPR2). Increased expression of VIPR2 in patients with schizophrenia implicates VIP signalling as a molecular mechanism underlying schizophrenia.
- Vladimir Vacic
- , Shane McCarthy
- & Jonathan Sebat
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Article |
Post-traumatic stress disorder is associated with PACAP and the PAC1 receptor
- Kerry J. Ressler
- , Kristina B. Mercer
- & Victor May
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News |
Dwarfism may stymie diseases of old age
A mutation in a pathway linked to ageing causes dwarfism, but may protect against cancer and diabetes.
- Ewen Callaway
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Research Highlights |
Root of resilience under stress
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Article |
Mapping copy number variation by population-scale genome sequencing
Harnessing information from whole genome sequencing in 185 individuals, this study generates a high-resolution map of copy number variants. Nucleotide resolution of the map facilitates analysis of structural variant distribution and identification of the mechanisms of their origin. The study provides a resource for sequence-based association studies.
- Ryan E. Mills
- , Klaudia Walter
- & Jan O. Korbel
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News |
China spurs quest for human variome
Population giant weighs in with funds for disease-related genetics project.
- David Cyranoski
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Research Highlights |
Promoter predicts drug results
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Comment |
Get ready for the flood of fetal gene screening
Regulators, doctors and patients need to prepare for the ethical, legal and practical effects of sequencing fetal genomes from mothers' blood, says Henry T. Greely.
- Henry T. Greely
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Article |
Evolution of human BCR–ABL1 lymphoblastic leukaemia-initiating cells
Analysing human B-cell acute lymphoblastic leukaemias, this study maps the genetic heterogeneity of cells within a given tumour sample and the evolutionary path by which different subclones have emerged. Leukaemia-initiating cells that transplant the disease mirror the genetic variegation of the bulk tumours, providing insights into the heterogeneity of these functional subpopulations at the genetic level. This has implications for therapeutic approaches targeting the tumours and specifically leukaemia-initiating cells.
- Faiyaz Notta
- , Charles G. Mullighan
- & John E. Dick
Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human
A decade’s perspective on DNA sequencing technology