nature.com

Sitemap

  • Log In
  • Register

nature.com blogs

blogs by NPG staff

Advanced search
  • Nature.com Blogs
  • Blog
  • Archive by Tag

Archive by tag | exome sequencing

03 Nov 2014 | 18:57 GMT

The genetic syntax of febrile seizures

Posted by Brooke LaFlamme | Categories: Linkage

The genetic syntax of febrile seizures

The genetics of seizure disorders, including epilepsy, has recently come into the spotlight (see the Nature Outlook on epilepsy). Epilepsy is a complex disease with many different subtypes, both sporadic and familial. While epilepsy is one of the most common neurological disorders, and it has been studied for a very long time, the underlying mechanisms of seizure disorders remain largely elusive. Identifying the genetic causes of different subtypes of the disorder can help to illuminate the gene networks involved and lead to a deeper understanding overall. Importantly, the genetic tools now exist to identify causal mutations for the many different subtypes of seizure disorders.  Read more

Tags:

  • behind the scenes
  • epilepsy
  • exome sequencing
  • febrile seizures
  • Holger Lerche
  • human genetics
  • STX1B
  • zebrafish

Article tools

  • add a comment
  • Email
  • Share/bookmark

    • Facebook
    • Twitter
    • Delicious
    • Digg
    • Google+
    • LinkedIn
    • Reddit
    • StumbleUpon

07 Apr 2014 | 23:59 BST

A re-SMARCable finding

Posted by Brooke LaFlamme |

A re-SMARCable finding

On March 23, Nature Genetics published 3 related papers reporting the finding that SMARCA4 is frequently mutated in a rare ovarian cancer type, small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) [Jelinic et al 2014, Ramos et al 2014, Witkowski et al 2014]  … Read more

Tags:

  • chromatin remodeling
  • David Huntsman
  • Douglas Levine
  • exome sequencing
  • familial cancer
  • Jeffrey Trent
  • ovarian cancer
  • rare cancer
  • recurrent mutations
  • small cell carcinoma of the ovary
  • SMARCA4
  • SWI/SNF
  • targeted sequencing
  • TGen
  • William Foulkes

Article tools

  • add a comment
  • Email
  • Share/bookmark

    • Facebook
    • Twitter
    • Delicious
    • Digg
    • Google+
    • LinkedIn
    • Reddit
    • StumbleUpon

About this blog

nature.com blogs
  • E-alert
  • RSS
nature.com blogs home

Search

Categories

  • #NJCE14
  • #NJCEBoston
  • #NJCELondon
  • #NJCESanFrancisco
  • #ScientistOnTheMove
  • – Blessed Okole
  • – Brady Huggett
  • – Bruce Booth
  • – Chris Dippel
  • – Chris Hillier
  • – David Wilson
  • – Ed Rybicki
  • – Fahd Al-Mulla
  • – Fernando Kreutz
  • – James Taylor
  • – Janette Dixon
  • – John McCulloch
  • – Julio Vito Wykrota
  • – Karen Liu
  • – Luiz Antonio Barreto deCastro
  • – Martin Partl
  • – Matthew Chervenak
  • – Michael Francisco
  • – Pramod Yadava
  • – Prashanth Bagali
  • – Samuel JK Abraham
  • – Viren Konde
  • 2012
  • About this blog
  • Academia
  • Academics
  • Access
  • Acoustics
  • Adaptation
  • Admin
  • Advertorial
  • Agriculture
  • AIDS
  • Alicia Newton
  • American Association for Cancer Research
  • American Association for the Advancement of Science
  • American Association of Physical Anthropology
  • American Astronomical Society
  • American Geophysical Union
  • American Physical Society
  • American Society for Cell Biology
  • American Society for Reproductive Medicine
  • American Society of Human Genetics
  • American Society of Microbiology
  • Andrew Mitchinson
  • Animal Behavior Society
  • Animal experiments
  • Anna Barnett
  • Anne Pichon
  • Antarctic field research 2010
  • Anthropolgy
  • Anthropology
  • Apiculture
  • Arboriculture
  • Archaeology
  • Archaeology and anthropology
  • Art of Science
  • Artificial intelligence
  • Arts
  • Ask the expert
  • Astronomy & astrophysics
  • Astrophysics
  • Author benefits
  • Author services
  • Author Services Feedback
  • Author's Corner
  • Authorship
  • Award
  • Awards
  • Awards and prizes
  • Away from home
  • Barcelona climate change conference
  • Behind the paper
  • Bio-imaging
  • Bioinformatics
  • Biological_approaches
  • Biology & Biotechnology
  • Biology and biotechnology
  • Biophysics
  • Biosecurity
  • Biotechnology
  • Blog
  • Blog Information
  • Blogging
  • Blogroll
  • Blogroll
  • books
  • Books & Arts
  • Boston Astronomy
  • Boston biotech
  • Boston Research
  • Boston science
  • Breaking News
  • Browser tabs
  • Burgess Shale Centenary
  • Business
  • Business development
  • Calls for Submissions
  • Canadian icebreaker
  • Cancer biology
  • Carbon markets
  • Career paths
  • Careers
  • Careers articles
  • Cartography
  • Categories
  • Celebrating the Day of Light
  • Cell and molecular biology
  • Cell Biology
  • Chemistry
  • Chemistry
  • Chemistry in retrospect
  • Citation analysis
  • Climate Change
  • Climate Policy
  • Climate prediction
  • Collaboration
  • Communication
  • Communities Happenings
  • Community
  • Competing interests
  • Competition
  • Computational
  • Computational approaches
  • Computational_approaches
  • Computer science
  • Conference Highlights
  • Conference reports
  • Conferences
  • Conservation science
  • COP18
  • COVID19
  • Cryosphere
  • CV
  • Daily Dose
  • Data availability
  • Data integration
  • Data Matters
  • Data policy
  • Data Reuse
  • Design
  • Development
  • Diabetes and metabolism
  • Digital Science
  • Disciplines
  • Diversity
  • Drug discovery
  • Drugs, drugs and more drugs
  • Durban climate summit
  • Earth and environment
  • Earth System Science Partnership
  • Earth, environment & ecology
  • Ebola
  • Ecological Society of America
  • Ecology
  • Ecology and Evolution
  • Editor Posts
  • Editorials
  • Education
  • Elisa De Ranieri
  • Energy
  • Entomology
  • Entrepreneurship
  • Environment
  • Environmental sciences
  • Ethical / Social
  • Ethics
  • Europe
  • European Society of Human Reproduction & Embryology
  • Euroscience Open Forum
  • Events
  • Everest expedition
  • Evolution
  • Evolution and paleontology
  • Expeditions
  • Faculty
  • Featured
  • Feedback
  • Film
  • Films
  • Finance
  • Financial Crisis
  • First Rounders
  • Five Day Filter
  • food science
  • Format
  • Forum
  • Fukushima
  • Funding
  • funding
  • Gavin Armstrong
  • Gene expression
  • Gene function
  • Gene regulation
  • General
  • General interest
  • Genetic association
  • Genetics
  • Genetics & Genomics
  • Genome-wide
  • Geological Society of America
  • Geoscience
  • Giulia Pacchioni
  • Global issues
  • Global Seed Vault opening
  • Grants, tenure and positions
  • Graphene Week
  • Guest blog posts
  • Guest features
  • Guest Post
  • Health
  • Health and medicine
  • Hints and Wrinkles
  • History of genetics
  • History of science
  • HIV/AIDS
  • How to answer
  • I-han Chou
  • Immunology
  • Import
  • In the Field
  • In the News
  • In your element
  • Industry
  • Infectious diseases
  • Institutions
  • Interactions
  • Interdisciplinarity
  • International AIDS conference
  • International Astronomical Union
  • International Relations
  • International Society for Stem Cell Research
  • Internship
  • IP/ Tech Transfer
  • Journal happenings
  • Journal journeys
  • Journal policy
  • Lab life
  • Lab story
  • Lepton Photon
  • Libraries
  • Liesbeth Venema
  • Lindau lessons
  • Lindau Nobel Laureate Meetings (lnlm)
  • Linkage
  • Local news
  • Luigi Martiradonna
  • Lunar and Planetary Science
  • Malaria
  • Marine science
  • Mass spectrometry
  • Materials Girl
  • Materials science
  • Medical research
  • Medical science
  • Meet the editor
  • Meeting report
  • Meetings
  • Mentoring
  • Mentoring and training
  • Metadata
  • Metagenomics
  • Method of the year
  • Microbiology
  • Microscopy & Imaging
  • Military science
  • Misconduct
  • MIT
  • Mitigation
  • Mobility
  • Model Organisms
  • Modeling
  • Molecular gastronomy
  • Monthly Map
  • Move
  • MSB updates
  • Multi-scale
  • Multimedia
  • My science failures
  • Nano-engineering
  • Nanotechnology
  • NASA Phoenix Landing
  • Nascent
  • Natural disasters
  • Natural history
  • Nature Covers
  • Nature Genetics Anniversary
  • Nature Genetics covers
  • Nature Genetics standards
  • Nature Graphics
  • Nature India Annual Volume
  • Nature India Essay Competition
  • Nature India photo contest
  • Nature India Photo Story
  • Nature India Special Issue
  • Nature Methods papers
  • Nature Nanotechnology
  • Nature Network round-up
  • Nature Research
  • nature.com blogs
  • nature.com blogs info
  • NChem research highlights
  • Neil Withers
  • Networks
  • Neuroscience
  • Neuroscience/mental health
  • New in Nature
  • New tools and techniques
  • news
  • News and Events
  • News and Updates
  • NJCE15
  • NJCEDusseldorf
  • Noah Gray
  • NPG special content
  • Obituary
  • Odds and ends
  • Oil spill science
  • Olive Heffernan
  • Oliver Morton
  • On Nature News
  • On the road
  • Open access
  • Open acess
  • Open peer review
  • Ornithology
  • Other authors
  • Other columns
  • Other Contributors
  • Palaeoclimate
  • Palaeontology
  • Paleontology
  • Particle Physics
  • Partnering / Licensing
  • Partners
  • Peer review debate
  • Peer Review Feedback
  • Peer review trial
  • people
  • People Management
  • Perspectives
  • Philosophy or Psychology or Ethics
  • Physics
  • Physics & Mathematics
  • Physics at the interface
  • Physiology
  • Picks of the week
  • Planetary science
  • Planetary sciences
  • Plant biology
  • Plant sciences
  • Podcasts
  • Policies
  • Policies Feedback
  • Policy
  • Policy and Public
  • Politics
  • Pollution
  • Postdoc
  • Postgraduate
  • Poznan climate-change conference
  • Pre-publicity
  • Press Release
  • Print
  • Proteomics
  • Protocols methods recipes cookery
  • Public and media
  • Publications
  • Publishing
  • Publishing tips
  • Quality and value
  • Quality measures
  • Quantitative
  • Quotes of the day
  • Random Thoughts
  • Rare diseases
  • Reactions
  • Regional Initiatives
  • Regulatory
  • Relationships
  • Report
  • Reports
  • Repository Highlights
  • Research
  • Research findings
  • Research Highlights
  • Resources
  • RNAi
  • Road to Copenhagen
  • Roberta Kwok
  • Robotics
  • Roundup
  • Royal Institution
  • Schedules
  • Scholarly impact
  • SciArt scribbles
  • Science
  • Science administration
  • Science around the world
  • Science calendars
  • Science Communication
  • Science communication and outreach
  • Science education
  • science events
  • Science festivals
  • Science film
  • Science Journalism
  • Science maps
  • science news
  • Science Online Bay Area (SoBA)
  • Science Online London (SoLo)
  • Science Online NYC
  • Science Online NYC (SoNYC)
  • Science Online Seattle (SoSEA)
  • Science Online Vancouver (SoVan)
  • Science organisations
  • Sciences
  • Scientific American
  • Scientific publishing
  • Scientific Reports
  • Scientists on the move
  • Sequencing
  • SfN Meeting
  • Silvia Milana
  • Single molecule
  • Site Updates
  • Soapbox Science Info
  • Social media
  • Social sciences
  • Social software
  • Society
  • Society for American Archaeology
  • Society for Developmental Biology
  • Society for Neuroscience
  • Society for the Study of Reproduction
  • SoNYC
  • Space
  • Space and astronomy
  • Spotlights
  • Springer Nature
  • SpringerMaterials
  • Starting the LHC
  • STEM
  • stem cells
  • Stem cells/cloning
  • Stephen Davey
  • Structural Biology
  • Structural Genomics
  • Stuart Cantrill
  • Support
  • Swine flu
  • Synthetic
  • Synthetic Biology
  • Systems
  • Systems Medicine
  • Technical solutions
  • Technology
  • Technology
  • Technology
  • Tenure
  • The News Net
  • There and Back Again
  • This and That
  • Tools and Techniques
  • Transcriptomics
  • Tuberculosis
  • UK
  • Uncategorized
  • Undergraduate
  • Unemployment
  • Union
  • US
  • Video
  • video and podcasts
  • Virology
  • Visualization
  • WCC-3
  • Webcast
  • Webcasts
  • Weekly round-up
  • Weekly Update
  • What's New in Nature Neuroscience
  • Wildlife
  • Wisdom
  • Women's world
  • World Conference of Science Journalists
  • World Science Festival
  • World watch
  • Writing

All nature.com blogs

  • A view From the BridgeA view From the Bridge
  • Action PotentialAction Potential
  • Flat Chat Flat Chat
  • Free AssociationFree Association
  • House of WisdomHouse of Wisdom
  • IndigenusIndigenus
  • MethagoraMethagora
  • Nature Future ConditionalNature Future Conditional
  • nature.com blogsnature.com blogs
  • Naturejobs BlogNaturejobs Blog
  • Of Schemes and Memes BlogOf Schemes and Memes Blog
  • On your wavelengthOn your wavelength
  • Plant LifePlant Life
  • Scientific DataScientific Data
  • Soapbox ScienceSoapbox Science
  • Spoonful of MedicineSpoonful of Medicine
  • StepwiseStepwise
  • The Sceptical ChymistThe Sceptical Chymist
  • Trade SecretsTrade Secrets
  • About us
  • Contact us
  • Accessibility statement
  • Help
  • Privacy policy
  • Use of cookies
  • Legal notice
  • Terms
  • Nature jobs
  • Nature Asia
  • Nature Education
  • RSS web feeds
Advanced search

© 2021 Springer Nature Limited. All Rights Reserved. partner of AGORA, HINARI, OARE, INASP, ORCID, CrossRef and COUNTER