Max Planck Institute for Intelligent Systems
Our goal is to understand the principles of Perception, Action and Learning in autonomous systems that successfully interact with complex environments and to use this understanding to design future artificially intelligent systems. The Institute studies these principles in biological, computational, hybrid, and material systems ranging from nano to macro scales. We take a highly interdisciplinary
How-to/exome analysis - SEQwiki
A short guide to Exome sequencing analysis using Illumina technology Disclaimer: The methods described in this guideline describe the way I do exome sequencing analysis in my laboratory (of humans) and may not be suitable for every . Feel free to add, change, remove parts of it (in a sensible manner). As I am not heavily experienced neither in bioinformatics in general nor in next-generation sequ
DriverDB
DriverDB incorporates huge amount of exome-seq data, annotation databases (such as dbSNP, 1000 Genome and Cosmic), and published bioinformatics algorithms dedicated to driver gene/mutation identification. We provide two points of view, "Cancer" and "Gene", to help researchers to visualize the relationships between cancers and driver genes/mutations. The "Cancer" section summarizes the calculated r
PLINK/SEQ genetics library
Getting started PLINK/SEQ 101 Extended tutorial Key concepts Project structure Variants and samples Meta-information Masks PSEQ documentation Basic syntax Project management Main data input Auxiliary data input Viewing data Eval expressions Data output Summary statistics Association tests Locus DBs Other reference DBs Misc. commands Other tools and resources Resource DBs Rplinkseq Web browser inte
関節リウマチに対するゲノム創薬手法を開発 | 理化学研究所
ポイント 10万人以上のビッグデータ解析で関節リウマチの101個の感受性遺伝子領域を同定 網羅的なデータベース解析を通じて関節リウマチの新たな疾患病態が判明 新たなゲノム創薬手法を見いだし、関節リウマチに対する新規治療薬候補を発見 要旨 理化学研究所（理研、野依良治理事長）は、全世界の10万人以上を対象としたゲノムワイド関連解析（GWAS）[1]を行い、関節リウマチの発症に関わる101個の感受性遺伝子領域を同定しました。また、新たなゲノム創薬手法を見いだし、関節リウマチの治療における新規治療薬候補を同定しました。これは、理研統合生命医科学研究センター（小安重夫センター長代行、久保充明副センター長）自己免疫疾患研究チームの山本一彦チームリーダーと、統計解析研究チームの岡田随象客員研究員、および東京大学、京都大学、東京女子医科大学、ハーバード大学を中心とする国際共同研究グループ[2]による成果
GWAS, Post-GWASに関する資料を公開しました - 読書帳
先週の会社のセミナーでGWASとPost-GWASについて、特にPhe-WASについて話をしました。その資料を公開します。 海外文献紹介として「Phe-WAS」という言葉を挙げている記事はいくつかありますが、PheWASの手法や利点・欠点について日本語で解説した資料はなかなかなく、かなり詳しい方に入ると思います。海外文献ではPhe-WASを用いて実際に行った網羅的探索を報告した論文の他にも、以下の2記事がおすすめです。 Linking Genes to Diseases by Sifting Through Electronic Medical Records (New York Times 2013年11月28日) Phe-WASに関するNew York Timesの記事、提唱者のJoshua氏がインタビューされています。 PheWAS – the tool that’s revolut
VCF (Variant Call Format) version 4.0 | 1000 Genomes
Please note that this page describes version 4.0 of the VCF specification. The VCF specification is now maintained by GA4GH. Details of the current version can be found with the HTS specifications. Please see VCF_4.0_sv for the conventions and extensions adopted by the 1000 Genomes Project for encoding structural variations in VCF 4.0 format. 0. Example VCF is a text file format (most likely store
Home | Human Genetic Variation Database
What's New? 07/08/2021 HGVD commercial license has been transferred to GenoConcierge Kyoto. 01/25/2021 HGVD system is upgraded. 04/01/2019 HGVD server has been moved to the Institute for Information Management and Communication (IIMC), Kyoto University. 08/02/2017 HGVD version 2.3 is now downloadable. 04/17/2017 New HLA typing software 'HLA-HD' is released. link 02/15/2017 HGVD version 2.1 is avai
How to read a genome-wide association study « Genomes Unzipped
As any avid follower of genomics or medical genetics knows, genome-wide association studies (GWAS) have been the dominant tool used by complex disease genetics researchers in the last five years. There’s a very active debate in the field about whether GWAS have revolutionized our understanding of disease genetics or whether they were a waste of money for little tangible gain. No matter where you f
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PDGene
Center for Cancer Genomics
EPACTS - Genome Analysis Wiki
Kaviar - known variants in the human genome, release 160204
NOT-OD-07-088: Policy for Sharing of Data Obtained in NIH Supported or Conducted Genome-Wide Association Studies (GWAS)
IMPUTE2: 1000 Genomes Imputation Cookbook - Genome Analysis Wiki
Mike Weale - GWAS code
https://spot.cgsmd.isi.edu/submit.php
MPD: Available genotype resources and tools
Genetics 210 - Genomics and Personalized Medicine
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