Kategoria: Archiwum: Porada tygodnia

dtc_testing

Wskazówka Video tygodnia: Direct to Consumer Genetic Testing and Genetic Counselling

W OpenHelix, we remember the days when people didn’t even barely have documentation with their software when they put it out (yah, Wiem,, it still varies). But outreach really is getting better. There are journals now that are also enforcing more reader-friendly ways to describe the research, with non-jargon summaries and some terrific visual aids.

Coraz bardziej, there are also videos associated with papers. I just came across this one, and thought it was a nice example of an important issue for non-scientists to access.

So this looks at direct-to-consumer (DTC) services available in Europe, but some of the same ones are available in the US. Oczywiście, w Stanach Zjednoczonych, as we muck around with health care again and what is/is not a pre-existing condition, the advice might be different. Westchnienie.

Hat wskazówka:

Odniesienie:

Middleton, A., Mendes, Á., Beniaminek, C. M., & Howard, H. C. (2017). Direct-to-consumer genetic testing: where and how does genetic counseling fit?. Medycyny spersonalizowanej, (14:3) , Strony 249-257 , DOI 10.2217/pme-2017-0001.

 

Wskazówka Video tygodnia: Neandertal Inheritance and Consequences

Ok, it’s been a while since this was a regular feature. But I am still finding that I want to show some videos of science topics and software tools sometimes. So it may not be a regular feature, but I will be highlighting some videos that seem interesting to me for various reasons.

This video struck me because I recently gave a talk about the information from ancestral genomes and the influence of the DNA on us today (as well as how we visualize that). They use software that we’ve talked about before, PolyPhen i SIFT, in this analysis. And it would have been handy to have this as a resources to give out to the audience members, who were general public folks in a pub. I am impressed that a research team did this additional step of explaining their research in this way.

Odniesienie:

Dannemann, M., Prüfer, K., Wagner, A., & Kelso, J. (2017). Functional implications of Neandertal introgression in modern humans Genome Biology 18:61. DOI: 10.1186/s13059-017-1181-7

support_MODs

Wskazówka Video tygodnia: baza lotnicza TV, oraz list poparcia dla społeczności organizmem modelowym

This week’s video tip was prompted by a couple of things. Pierwszy, był to tweet od FlyBase, about their video channel. Minęło trochę czasu odkąd zrobiliśmy Baza lotnicza Tip of the Week, tak to był wystarczający powód.

Ale to również przyszedł tuż po myślałem o znaczeniu organizmów modelowych, opiera się na bazach danych kampanii przez organizm modelowy ratowania ich finansowania. Oto tweet z bazy danych genomu drożdży (PLN) z prośbą:

Ale ten list cytuje drożdże, muchy, WormBase, Taniec, MGI, RGD i Ontologia Gene także.

mergeMam słabość do organizmów modelowych, Nie tylko ze względu na ogromną ilość wielkie biologii oni pod warunkiem. Byłem postdoc The Jackson Lab, i jestem w pełni świadomi jak ważne jest, aby mieć głębokość specjalistów gatunku zaangażowanych w tworzenie i utrzymanie zasobów, które są odpowiednie dla ich organizmu. Ale to coś więcej niż tylko wiedzy instytucjonalnej i danych, oczywiście. Jest to również znaczenie społeczności naukowców pracuje nad tego organizmu, wspierając je i mając ich potrzeby spełnione na wiele sposobów z zasobów danego gatunku.

Więc w tym tygodniu wskazówka uwypukla pewne cechy narzędzi FlyBase, jako sposób przypominają ludzi z wielkiego dzieła, które dzieje się w bazach danych organizmów modelowych (Mody).

Teraz, Jeśli nie zostało to jeszcze zrobione, proszę rozważyć podpisanie się do List poparcia dla tych baz danych. Możesz przeczytać więcej o tej sprawie w ciągu na terenie, ale na krótko:

NHGRI / NIH ostatnio wyprzedza plan, w którym modów będą zintegrowane w jednej wspólnej bazie danych, Wraz z 30% Zmniejszenie finansowania każdego MOD (zobacz również te Charakter i Nauka aktualności historie). O ile wzrosła integracja zaprezentuje wiele zalet, plan doprowadzi do utraty krytycznych zbiorów danych specyficznych dla organizmu. Krój finansowania będzie również sparaliżować podstawowe funkcje, takie jak wysokiej jakości literatury i odzyskiwania i adnotacji genomu, degradujące użyteczność modów. Ze względu na dużą liczbę naukowców, że ta zmiana polityki wpłynęłoby oraz znaczenie ich pracy, Jest to kwestia ekstremalnych niepokoju.

Ja zawsze krzyczał na temat znaczenia wysokiej jakości i odzyskiwania. Jest tak niedoceniane, ale to tylko coraz bardziej istotne teraz, że jesteśmy coraz tyle danych sekwencyjnych i musimy najlepszą dotychczasową wiedzę, aby pomóc nam przez to. Teraz nie jest czas, aby wyciąć z powrotem na kuratorów.

Więc jeśli masz ważnych danych MOD i serwisach społecznościowych, proszę rozważyć podpisanie listu do wsparcia.

Szybkie łącza:

FlyBase: http://flybase.org/

Wsparcie organizm modelowy Databases list: http://www.genetics-gsa.org/MODSupport/

Referencje:

Hayden, Erica Sprawdź. “Finansowanie dla baz danych modelu organizmu w kłopoty.” Flora Wiadomości. () DOI: 10.1038/nature.2016.20134

Kajzer, Jocelyn. “Finansowanie kluczowych zasobów danych w niebezpieczeństwie.” Nauka 351.6268 (2016): 14-14. DOI: 10.1126/science.351.6268.14

Attrill, Helen, i wsp.. “FlyBase: utworzenia zasobu Gene grupy dla Drosophila melanogaster.” Nucleic Acids Research (2015): gkv1046. DOI: 10.1093/Granat / gkv1046

genonets_quickstart

Wskazówka Video tygodnia: Genonets, exploring genotype-phenotype relationships

Lately I’ve been keeping an eye on a lot of the tools that link individuals with sequence data, ich fenotypy, and researchers/physicians who may either study or treat the associated medical issues (zobaczyć MyGene2 most recently) . But there’s a lot of room upstream of these kinds of patient outcomes to explore genotypes and phenotypes. This week’s Video Tip of the Week is for Genonets, offering “Analysis and Visualization of Genotype Networks”, a tool that can help to explore these relationships for pre-clinical/research scenarios as well.

A recent paper explains the goals behind their tools, and they also have a series of videos on their web site to help you get going with Genonets. I’ll put the intro video here, but be sure to click over to their “Learn Genonets” page for a lot more. There’s also a text-based tutorial you can work through which is helpful.

You can also kick the tires a bit with a sample file that’s available from their search page. Just click the checkbox to load it up and try it out. And then be sure to explore those “deep dives” videos to go further.

Hat wskazówka:

Szybki link:

Genonets: http://ieu-genonets.uzh.ch

Odniesienie:

Khalid, F., Aguilar-Rodríguez, J., Wagner, A., & Payne, J. (2016). Genonets server—a web server for the construction, analysis and visualization of genotype networks Nucleic Acids Research DOI: 10.1093/nar/gkw313

UCSC Genome Bioinformatics

Wskazówka Video tygodnia: UCSC Genome Browser Exon-only Mode

Zespół UCSC Genome Browser continues to update their resources and offer new ways to find and visualize features of interest to researchers. One of the newer features is the “multi-region” option. When it was first launched, I did a tip on how to use that, with some of the things that I noticed while I was testing it pre-launch. But now the folks at UCSC have their own video on the exon-only display that you might also find useful.

One of the things that is illustrated here is how the exon-only mode is handy to enhance your exploration of RNA-Seq data. It also uses a great ENCODE data set as an example, and if you haven’t been using that collection it’s a good reminder of the kinds of things you can find in that resource still. And this extensive data set shows how much easier it is to look at different isoforms in the data in this new exon-only mode.

So have a look at this display option if you haven’t before, especially how it can help you to see transcript differences. Jeśli nie są zaznajomieni z Kodowanie danych that’s being used, you can also see our training on that which will help you to understand how to use that data and the filtering features that are also used in this video.

Specjalna uwaga: I have updated the UCSC Intro slides to include the new Gateway strategies as well. So download those slides for the latest look.

+++++++++++++

Ujawnienie: UCSC Genome Browser tutorials are freely available because UCSC Sponsorzy us to do training and outreach on the UCSC Genome Browser.

Szybkie łącza:

UCSC Genome Browser: http://genome.ucsc.edu

UCSC Genome Browser training materials: http://openhelix.com/ucsc

ENCODE: http://www.openhelix.com/ENCODE2

Referencje:

Ostroga, M., GAŁĄŹ, A., Rosenbloom, K., Raney'a, B., Sponsorzy, B., Nejad, P., Lee, B., Learned, K., Karolchik, D., Hinrichs, A., Heitner, S., Twardy, R., Haeussler, M., Guruvadoo, L., Fujita, P., Eisenhart, C., Diekhans, M., Clawson, H., Casper, J., Fryzjer, G., Haussler, D., Kuhn, R., & Kent, W. (2016). Genome UCSC bazy danych Przeglądarka: 2016 aktualizacja Nucleic Acids Research, 44 (D1) DOI: 10.1093/nar/gkv1275

ENCODE Konsorcjum projektowe (2012). Zintegrowany Encyklopedia elementów DNA w genomie ludzkiego Charakter, 489 (7414), 57-74 DOI: 10.1038/nature11247

Mygene2_vid

Wskazówka Video tygodnia: MyGene2, connecting families with rare conditions with each other

Last week’s tip encouraged people to think about how their DNA may be used by various stakeholders. This could be researchers, physicians, pharmaceutical companies, i tak dalej. But one thing it didn’t really cover–now that I think of it–was connecting with other families who may share variations that impact the health of someone in their household. If there isn’t research, or treatment, this connection alone might be worth it for some families.

So when NPR recently had a story on a database for families with rare genetic conditions, Poszedłem do obejrzenia: Families Isolated By Rare Genetic Conditions Find New Ways To Reach Out.

Na stronie jest MyGene2, and it can help unrelated folks who have the same genome challenges connect with each other. It also can connect folks to researchers interested in the topic. But it does seem to be aimed more specifically at families seeking each other. It was recently awarded a chance to compete for the final prize in the Open Science Prize effort, and they got a funding boost to keep going.

Jest “powitanie” video that they’ve made, but it’s light on the software details. Nadal, jednak, I wanted to share the information so families may find it, and researchers may want to know about this resources as well. The video isn’t embeddable, jednak, so you’ll have to click to view it:

Mygene2_vid

You can learn more about the resources from their FAQ collection. I’ve found a couple of references (poniżej) that provide some further information about the project [Uwaga: the Genetyki w medycynie one goes to a paywalled, kawałek–but you can access the pre-print version PDF at bioRxiv]. As more and more families who are seeking answers will have sequencing information available, they’ll need a place to go with that. I hope they find each other, and find answers.

Szybkie łącza:

MyGene2: http://www.mygene2.org

Wykonaj je na twitterze: https://twitter.com/MyGene2

Find them on Facebook: https://www.facebook.com/MyGene2/

(The Genetyki w medycynie piece also notes My46.org, “a web-based tool for managing return of genetic test results”.)

Referencje:

Panko, B. (2016). Six finalists to compete for Open Science Prize Nauka DOI: 10.1126/science.aaf9980

Chong, J., Yu, J., Lorentzen, P., Park, K., Jamal, S., Tabor, H., Rauch, A., Saenz, M., Boltshauser, E., Patterson, K., Nickerson, D., & Bamshad, M. (2015). Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features Genetyki w medycynie DOI: 10.1038/gim.2015.161

ga4gh_vid

Wskazówka Video tygodnia: Your DNA, Your Say. GA4GH wants to hear from you. I.

The Globalny Sojusz na rzecz Zdrowia i Genomics (GA4GH) has come up a few times on our blog. The last time we highlighted them for a tip, it was about their Beacon tool. The idea of the Beacon is that it could interrogate a database but in a very subtle way, without needing access to the entire sequence information of a patient. It would ask a simple yes/no question about a given sequence variant–and if a “tak” came back, then a researcher could go through the process of getting proper access to protected patient data.

So it was a way to keep people from pawing through data that they don’t need. And yet it could still connect people who might benefit from research, with researchers who need information.

But certainly issues of patient or donor privacy are hot topics. More and more data will come in from large projects, or from diagnostic samples, and cancer vs normal tissue comparisons, and we are going to struggle with the access vs. privacy matters for a while. The general public is only now becoming aware of the impacts. But we certainly need people to understand and we’ll want them to contribute to expanding our knowledge about health and disease.

That’s why the folks associated with GA4GH, the Wellcome Trust, and the Wellcome Genome Campus are eager to engage the public on their feelings on use of genomic sequence data. Mają launched a project called “Your DNA Your Say”[PDF], in the form of a survey with videos to help understand where people are on this issue. Here’s the intro video to entice you to answer the survey:

I answered the survey because I do have concerns about access to information that will help us drive the science forward, as well as about the potential for misuse of the information. But I would like them to hear from as many people as possible, so that we can understand the barriers to research and donation that are looming. Have your say. I rozpowszechniać.

You can learn more about their ideas in a variety of publications–I’ll link to one below, but there are other publications and more details about the overall projects and individual tools at the GA4GH web site.

Szybkie łącza:

Survey site: YourDNAYourSay.org

GA4GH: http://genomicsandhealth.org/

Referencje:

Lawler, M., Siu, L., Rehm, H., Chanock, S., Alterovitz, G., Burn, J., Łysy, F., Lacombe, D., Teh, B., Na północ, K., Sawyers, C., & , . (2015). All the World’s a Stage: Facilitating Discovery Science and Improved Cancer Care through the Global Alliance for Genomics and Health Cancer Discovery, 5 (11), 1133-1136 DOI: 10.1158/2159-8290.CD-15-0821

ProSplign

Wskazówka Video tygodnia: ProSplign in NCBI’s Genome Workbench

ProSplign

There are many tools at NCBI, with a huge range of functions. Literatura, sekwencji danych, zmiany, struktury białka, chemicals and bioassays, i więcej. It’s hard to keep track of what’s available. Their video tutorials are helping me to be aware of new tools, and new features within existing tools. W tym tygodniu Porada tygodnia, we’ll look at their recent video for ProSplign. It’s a tool that will help you align protein information to genomic sequences.

Chociaż Genome Workbench itself has been around for a while (we featured it as a tip it first in 2013), it is constantly underdevelopment, and new features are available regularly. And although this tip focuses on how to use the ProSplign piece, if you haven’t used it much it will help you to understand how a number of tools within the Workbench can be accessed. You can also see that Splign is available in the tool list–which is another NCBI tool for a similar type of process, but with mRNA sequences as the focus.

If you want to have a text-based type of walk-through instead, there is a page that will take you through the features (see the quick links below). And there are other videos that will help you to explore the Genome Workbench features as well–there’s a handy special playlist of just those wideo. Subscribe to their YouTube channel for notices of their new items.

Szybki link:

NCBI Genome Workbench: http://www.ncbi.nlm.nih.gov/tools/gbench/

Text-based tutorial page: https://www.ncbi.nlm.nih.gov/tools/gbench/tutorial13/

Referencje:

Kapustin, Y., Suworow, A., Tatusova, T., & Lipman, D. (2008). Splign: algorithms for computing spliced alignments with identification of paralogs Biology Direct, 3 (1) DOI: 10.1186/1745-6150-3-20

NCBI staff (2016). Zasobów bazy danych Krajowego Center for Biotechnology Information Nucleic Acids Research, 44 (D1) DOI: 10.1093/nar/gkv1290

Mason_JGI

Wskazówka Video tygodnia: JGI user meeting videos, and MetaSUB

Mason JGIThis week’s Video Tip of the Week is actually a whole bunch of videos. Although I’ll highlight one here as our tip, there are many great talks from the recent JGI Genomics of Energy & Environment meeting. Although typically we focus on specific software tools for our tips, I think this is a nice case of also looking at the type of research done with the tools.

This is a nice example of how to make a meeting accessible for a lot of people as well, using multiple strategies. The video channel, a Storify, dropboxes of slides (poniżej), oraz agenda details can help you to decide what might be relevant for your work. Na przykład, Omówiliśmy Docker, but you can now see how it’s deployed by the folks who are talking about it here. There’s a talk with Phytozome. And much more.

For today I’ll highlight MetaSub as one of the projects from the Mason lab. The Mason lab has participated in projects you probably heard about in the media–including swabbing the NYC subway system. You can see that data at PathoMap. MetaSUB stands for a data collection effort coming up soon, the Metagenomics & Metadesign of Subways and Urban Biomes. A global swabbing festival of the 10 busiest subways in the world (including my own–I wonder if I can do the station in my neighborhood?), to get more geospatial metagenomics maps, find antimicrobial resistance markers, and look for new biosynthetic gene clusters. It will be held on June 21, 2016–the summer solstice. It will tell us way more about our urban environments than we currently know. Maybe too much. But it’s a great idea, sure to reveal things we don’t know about our lived environment right now.

And here are the slides for the talk, as promised in the video. Mason tweets them:

He seriously did get through those 138 slides in 30 minut. I was skeptical when I downloaded them before watching through them with the talk–but he really managed it. I was kind of out-of-breath just watching it.

He also talked about extreme environment sampling, i MetaPhlan2 i HUMAnN2 analizy, in a later segment. The whole thing is an excellent and breezy discussion of real-world genomics and a lot of appealing stories that the public would connect with. They are also doing educational outreach with a HTGAA course (How To Grow Almost Anything). There some really fun stuff with the Gowanus canal (poważnie), and so much opportunity just hanging around in our cities. Ale również–what’s growing in space. They are working on space station mold. And astronauts–the NASA twins. They are also sending up a MinION (which they checked to see would work in microgravity–see paper below).

It was a very engaging talk. From an apparently very busy guy.

Hat wskazówka:

Szybkie łącza:

PathoMap: http://www.pathomap.org/

MetaSUB: http://www.metasub.org/

Referencje:

Afshinnekoo, E., Meydan, C., Chowdhury, S., Jaroudi, D., Boyer, C., Bernstein, N., Maritz, J., Reeves, D., Gandara, J., Chhangawala, S., Ahsanuddin, S., Simmons, A., Nessel, T., Sundaresh, B., Pereira, E., Jorgensen, E., Kolokotronis, S., Kirchberger, N., Garcia, I., Gandara, D., Dhanraj, S., Nawrin, T., Saletore, Y., Alexander, N., Vijay, P., Hénaff, E., Zumbo, P., Walsh, M., O’Mullan, G., Tighe, S., Dudley, J., Dunaif, A., Ennis, S., O’Halloran, E., Magalhaes, T., Boone, B., Jones, A., Muth, T., Paolantonio, K., Alter, E., Schadt, E., Garbarino, J., Prill, R., Carlton, J., Levy, S., & Mason, C. (2015). Geospatial Resolution of Human and Bacterial Diversity with City-Scale Metagenomics Cell Systems, 1 (1), 72-87 DOI: 10.1016/j.cels.2015.01.001

Alexa B.R. McIntyre, Lindsay Rizzardi, Angela M Yu, Gail L. Rosen, Noah Alexander, Douglas J. Botkin, Kristen K. John, Sarah L. Castro-Wallace, Aaron S. Burton, Andrew Feinberg, & Christopher E. Mason (2015). Nanopore Sequencing in Microgravity bioRxiv DOI: 10.1101/032342