Pratica di Shadowing: Sequence Variant Literature Search Tips and Tricks - Impara a parlare inglese con i video

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Hi, my name is Jessica Mester.

I'm a genetic counselor at GeneDx and a member of the ClinGen Education Workgroup.

This presentation will provide a brief introduction into performing a literature search for sequence variant interpretation.

Our time today will focus on three main points relevant to

both bio curators working to classify variants as well as clinicians

might be searching for additional information on a variant picked up in one of their patients.

We'll discuss how to incorporate nomenclature into an effective literature search, what resources to use to find articles,

and we'll also talk about some common speed bumps you may hit during your literature search and ways to overcome them. But first,

let's talk about the purpose of doing a literature search to help us wrap our heads around what we're looking for.

As a biocurator, you're looking for articles that provide evidence for the purpose of applying ACMG criteria.

These include papers describing functional studies or that characterize the potential molecular impact of the variant, as well as clinically focused papers giving patient phenotype,

describing families that provide segregation evidence, or case control studies.

Remember that you're looking for evidence that could either support or refute pathogenicity.

As a clinician, in addition to helping you get a sense for what information about a variant may support a laboratory's classification,

you may also do a literature search to help you understand more about the phenotypic spectrum associated with the disease,

the types of variants associated with the disease, or one specific variant of interest.

Before we begin, I also want to enforce the idea that there is no such thing as the perfect literature search tool.

Using a combination of sources is generally necessary to be thorough and get the job done.

However, there are a few resources

that have already done some of the heavy lifting regarding compiling publications

that describe a specific variant that provide a helpful starting point.

HGMD, the human gene mutation database, has both a professional and a public version that provides variant level data with PubMed IDs and links to articles.

The free version isn't as up - to -date as the paid version.

Also, be aware

that HGMD tends to be very generous with labeling variants seen in any patient with a phenotype as being disease -associated,

but did not classify variants using the ACMG -AMP criteria.

As such, HGMG is best used as a source to help you find literature that may help you classify a variant,

but should not be considered a repository of curated pathogenic variants.

There are also gene -specific databases, many listed at the link provided or you can find via a Google search,

which may have compiled critical literature about a specific gene as well as variant -level evidence.

If you expect to be curating

or investigating a number of variants for a particular gene and a gene -specific database is available,

I highly encourage you to familiarize yourself with this resource

so you can fully understand where they get their information from and how to best utilize it.

Finally, some ClinVar submitters provide citations with PubMed IDs or links to other evidence that support their classification.

However, be cautious, as sometimes they'll link to an article not because it contains information on your variant,

but because it describes a pathogenic variant at the same residue that was used as evidence to support classification.

There are also tools that are working to try and simplify the literature search process.

Two I wanted to highlight are Mastermind, for which ClinGen curators get access to the full version for a few months trial period,

and LitVar, which is an NCBI tool, and other similar tools are in development.

While searching PubMed for articles on a specific variant will find articles where the variant appears in the abstract or title,

often for papers that list a number of variants identified in a population with a specific phenotype, the variant information is only contained within a table,

sometimes just in supplemental data, and wouldn't be picked up on a PubMed search.

As a result, the two tools

that I've personally found to be the most effective for finding variant -specific literature are Google and Google Scholar.

Now, I will say there is a bit of a learning curve with using Google search results, but with time and experience you'll start to recognize

which search hits are worth looking into further and which don't lead you to useful links.

For example, searching ATM variants finds scientific publications as well as local ATM machine locations.

But sometimes you'll find a link that looks really helpful, such as a supplemental table to an article, but the source article isn't clearly specified.

We'll walk through an example of that later in this talk.

Google Scholar is more specific than Google

because it is limited to published academic literature

and tends to be more effective at finding variants listed in a table within the actual paper,

but it may not find you publications where your variant is only in a supplemental table.

When building your search term, you want to include the name of your gene as well as several versions of the variant nomenclature.

I have some specific examples on the next slide, but want to preview a few helpful hints here.

Using quotation marks and the Boolean operators AND and OR can help make sure your search output is comprehensive,

but not so extensive that you're spending hours digging through search hits for a single variant.

Quotation marks help you specifically find an exact match for the text within the marks.

While we hope that publications will stick to defined HGVS nomenclature, sometimes it helps to be a little creative,

especially for older publications, and use genomic position as well as variant nomenclature in your search string.

If your gene has aliases or historic names, including those may help.

You also need to be aware of alternate transcripts or nomenclature that might have been commonly used in addition to HGVS.

Now, I won't belabor this point, as it could certainly merit its own separate talk,

but you might be able to identify alternate transcripts or nomenclature on a laboratory report in ClinVar,

or for biocurators who are curating in the variant curation interface, this information may also appear in the evidence view.

I'll also direct you towards Dr. Marino DeStefano's excellent article

and talks on alternate transcripts on the ClinGen YouTube channel for more information on this topic.

So, here are examples of search strings you might use for specific types of variants.

In addition to quotation marks and the AND or Boolean operators, you'll also see an asterisk here and there.

In search language, this is called a wildcard operator, and will return anything that starts with the preceding text.

Looking at a few examples, you'll see in the first row for the P10 nonsense variant ARG335 -TER,

the CD nomenclature 1003C2T is used without the C that is a part of HGVS nomenclature,

as some articles do not include the CDOT even though they should.

You'll also see two versions of the CDOT nomenclature, one with a space between the nucleotide position and the nucleotide change, and one with no space.

In addition to TER as the HGVS termination for a stop codon, I also included ARCH335 -STOP because,

again, that nomenclature might be used for nonsense variants, particularly in older publications.

And finally, the genomic position of the nucleotide change is included for good measure.

Looking through the other examples, you'll see more of the same.

Each includes nomenclature referring to the nucleotide change, protein change, and genomic position.

Bringing your attention to the in -frame indel row, while the HGVS nomenclature specifies the nucleotides deleted .

An author might have shortened this to say instead to save column space in a table.

Now I want to take you through an example of Google search results for the MYBPC3 frameshift variant in the previous table.

At first, you might think, oh no, I have to review 113 articles?

I promise you, although that looks intimidating, it's actually not that bad.

Trying this out, you'll see that the search output includes multiple links from the same source,

many of which you'll instantly recognize as ClinVar entries for the variant, Nomad links, or other databases you might have already reviewed.

Also note that these searches will pull up articles where your gene is mentioned and your variant is mentioned, but they don't line up.

Many genes were looked at in the study and a variant with the same cDNA nomenclature was found in a different gene.

When you first start learning this process, I do think it's helpful to explore most of the links,

especially on the first few pages of your search result, to familiarize yourself with the kinds of search hits that are returned.

Over time, you'll recognize which search hits are likely to lead you to useful information and really need to be explored.

So using the search string for that MYBPC3 frameshift variant, one of your first Google hits looks really promising and and indeed,

takes you directly to the actual article in PLAS 1 that contains your variant.

This is the best case scenario.

Other links you'll often see are to database entries for your variant in ClinVar, which tends to be at the top of Google search results.

You may also find links to an LOVD entry, which when you click on the link, takes you into LOVD.

Here for this variant, we see there is a reference cited which we'd want to find and review if we hadn't already.

Clicking on this link takes you to the PubMed entry for the article, which you'd hopefully then be able to access to look for your variant.

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Another possible result of a Google search takes you on a bit of a treasure hunt.

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This link takes you to a Word document, which is a supplementary table to an article that appears to contain your specific variant.

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However, the name of the article, year of publication, etc. aren't clearly specified, but clues are given within the name of the word document.

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Taking these clues to the Genetics in Medicine journal website, journal websites typically have a search tool at the top of the page.

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Clicking this, let's add our possible author name, Funke, and possible publication date of 2010 to see what we get.

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And, lo and behold, it looks like we might have a match.

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And when you look at this article, indeed, it has our variant and the supplemental table matches what we found in Google.

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This same search phrase in Google Scholar only gives us one article, which is different from the other three we found using Google,

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but still looks like it might include a patient with our variant and HCM.

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Words of caution when looking at variant -specific literature.

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Although it's good practice as an author to state

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when a patient included in your paper has previously been published elsewhere and then cite that publication,

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perhaps an author did not realize the patient was already published, resulting in the same patient or family being presented in multiple separate publications.

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This is important, as seeing a variant in multiple independent probands might lead an expert panel to apply a higher level of phenotype -related evidence.

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Use your common sense.

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If the authors between the articles have some overlap, if the same study cohort is being utilized,

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or if specific clinical details like age diagnosis and phenotype are highly aligned, chances are it's just one family or patient that was reported multiple times.

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In these situations, it's best to err on the side of caution

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and take a conservative approach by only counting apparently similar probands or families once.

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In summary, I hope you come away from this talk knowing

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that developing literature search skills isn't something that you become highly skilled at overnight, but is a learning process that improves with time and practice.

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I hope you'll look to available database resources to increase your efficiency,

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as well as be able to build search strings to perform comprehensive searches using Google and Google Scholar.

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Finally, always look at the source publication to make sure your variant of interest is present

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and to understand how the information contained in the article relates to your needs.

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I hope this has been a useful introduction to literature searches for sequence variant interpretation.

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Please visit www .clinicalgenome .org for additional educational resources and to learn more about ClinGen initiatives.

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Our funding sources are listed at the bottom of this slide.

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Please feel free to contact ClinGen by email at ClinGen at clinicalgenome .org with questions or feedback.

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Thank you.

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Vocabolario e note di pronuncia per questa lezione

Questa lezione di conversazione si basa sul video “Sequence Variant Literature Search Tips and Tricks”. Le parole che ritornano più spesso: variant, search, article, Google, literature. Questo video contiene 5 frasi e 2136 parole da ripetere con lo shadowing. Il parlato dura 12:34. Chi parla ha un ritmo naturale di circa 170 parole al minuto, vicino a una conversazione quotidiana. Solo il 79% delle parole rientra nelle 3.000 più comuni dell’inglese, quindi il lessico è impegnativo.

Vocaboli chiave di questo video

15 parole del video che vale la pena imparare, con pronuncia e significato:

Parola	Pronuncia	Significato
variant sostantivo	/ˈvæɹi.ənt/	variante
publication sostantivo	/ˌpʌblɪˈkeɪʃ(ə)n/	pubblicazione
gene sostantivo	/d͡ʒiːn/	gene
database sostantivo	/ˈdeɪtəˌbeɪs/	database, base di dati
helpful aggettivo	/ˈhɛlp.fl̩/	disponibile, utile
string sostantivo	/stɹɪŋ/	spago, stringa
operator sostantivo	/ˈɑpəˌɹeɪtɚ/	operatore
classification sostantivo	/ˌklæsɪfɪˈkeɪʃən/	classificazione
alternate aggettivo	/ˈɔl.tɚ.nət/	alterno, alternato
specify verbo	/ˈspɛs.əˌfaɪ/	specificare
transcript sostantivo	/ˈtɹæn.skɹɪpt/	testo
quotation sostantivo	/kwoʊˈteɪʃn̩/	preventivo
output sostantivo	/ˈaʊtpʊt/	risultato, produzione
comprehensive aggettivo	/ˌkɑm.pɹəˈhɛn.sɪv/	esaustivo, completo
sequence sostantivo	/ˈsiː.kwəns/	sequenza

I phrasal verb che sentirai

Parola	Pronuncia	Significato
line up verbo	/laɪnˈʌp/	allineare

La grammatica di questo video

Le strutture che chi parla usa di più, con le parole esatte del video:

Struttura	Nel video
Forma passiva be + participio passato — conta ciò che accade, non chi lo fa	should not be considered · was used · is only contained
Present perfect have/has + participio passato — un’azione passata che conta ancora adesso	have already done · I've personally found · has previously been published
Frasi relative who / which + frase — un’informazione in più su una persona o una cosa	LitVar, which is · document, which is · article, which is

Pronuncia a cui fare attenzione

Chi parla usa 34 contrazioni e forme ridotte, come you'll, we'll, you're. Pronunciale nella forma breve, così come le senti.

I suoni “th”: thorough /ˈθʌɹoʊ/, pathogenic /pæθəˈd͡ʒɛnɪk/, pathogenicity /ˌpæθəd͡ʒəˈnɪsɪti/
I suoni “sh” e “zh”: publication /ˌpʌblɪˈkeɪʃ(ə)n/, classification /ˌklæsɪfɪˈkeɪʃən/, quotation /kwoʊˈteɪʃn̩/, interpretation /ɪnˌtɜːpɹəˈteɪʃən/, caution /ˈkɔːʃ(ə)n/
Parole lunghe — attenzione all’accento: publication /ˌpʌblɪˈkeɪʃ(ə)n/, operator /ˈɑpəˌɹeɪtɚ/, classification /ˌklæsɪfɪˈkeɪʃən/, comprehensive /ˌkɑm.pɹəˈhɛn.sɪv/, laboratory /ˈlæb(ə)ɹəˌtɔɹi/

I suoni difficili per chi parla italiano:

/h/ — va soffiata, non è muta: helpful /ˈhɛlp.fl̩/, comprehensive /ˌkɑm.pɹəˈhɛn.sɪv/, highlight /ˈhaɪˌlaɪt/, hint /hɪnt/, behold /bɪˈhəʊld/
Consonante finale — senza aggiungere una vocale dopo: variant /ˈvæɹi.ənt/, database /ˈdeɪtəˌbeɪs/, alternate /ˈɔl.tɚ.nət/, transcript /ˈtɹæn.skɹɪpt/, output /ˈaʊtpʊt/
/æ/ — più aperta della “e”: variant /ˈvæɹi.ənt/, classification /ˌklæsɪfɪˈkeɪʃən/, transcript /ˈtɹæn.skɹɪpt/, laboratory /ˈlæb(ə)ɹəˌtɔɹi/, feedback /ˈfiːdˌbæk/

Come esercitarsi con questo video

Ascolta tutto il video una volta senza parlare e annota le parole che non conosci.
Inizia a velocità 0,75×, fai shadowing frase per frase e torna alla velocità normale quando diventa facile.
Registrati e confronta con l’originale, facendo attenzione a parole come variant, publication, gene.

Cos'è la tecnica dello Shadowing?

Shadowing è una tecnica di apprendimento delle lingue supportata da studi scientifici, originariamente sviluppata per la formazione dei traduttori professionisti e resa popolare dal poliglotta Dr. Alexander Arguelles. Il metodo è semplice ma potente: ascolti un audio in inglese di madrelingua e lo ripeti immediatamente ad alta voce — come un'ombra che segue il parlante con un ritardo di solo 1–2 secondi. A differenza dell'ascolto passivo o degli esercizi di grammatica, lo shadowing costringe il tuo cervello e i muscoli della bocca a elaborare e riprodurre simultaneamente i modelli di discorso reale. La ricerca dimostra che migliora significativamente la precisione della pronuncia, l'intonazione, il ritmo, il discorso connesso, la comprensione dell'ascolto e la fluidità del parlato — rendendolo uno dei metodi più efficaci per la preparazione alla prova di speaking dell'IELTS e per la comunicazione reale in inglese.

Tecnica dello shadowing: leggi la guida completa passo dopo passo →

Pratica di Shadowing: Sequence Variant Literature Search Tips and Tricks - Impara a parlare inglese con i video

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