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doi: 10.1002/mgg3.1341. However, the guideline did not elaborate on specific considerations for the different types of loss of function variants, nor did it provide decision-making pathways assimilating information about variant type, its location, or any additional evidence for the likelihood of a true null effect. The Criterion Collection is known for its love of film noir, which makes Charles Laughton’s “The Night of the Hunter” a no-brainer when it comes to the library’s most beloved titles. The director of Madeline’s Madeline and Shirley chooses a selection of old favorites that combine beauty with ugliness, the logical with the irrational. Epub 2020 Aug 14. With “Dr. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. A movie lover’s dream, the Criterion Channel offers classics and discoveries from around the world, thematically programmed with special features, on a streaming service brought to you by the Criterion Collection. Morales-Rosado JA, Macke EL, Cousin MA, Oliver GR, Dhamija R, Klee EW. Its web of ambiguity is so thick that it’s impossible not to get lost in it. Editor’s Note: This article is presented in partnership with FilmStruck. and two films that capture the “twilit feeling of childhood.”, shares the films that inspire her, including works that allow her to “participate in true genius.”. Get the latest public health information from CDC: https://www.coronavirus.gov. Front Pediatr. The director of Aquarius and Bacurau shares his favorite Criterion releases, paying special attention to unorthodox studio productions and underappreciated masterpieces. The acclaimed band’s three members each choose a selection of favorites, with an emphasis on movies that have haunted them since childhood. . The founder of the website Screen Slate picks a selection of favorites, including an ’80s indie gem, shockers ranging from Eraserhead to Canoa, and two films that capture the “twilit feeling of childhood.”, The Cannes-prize-winning director of The Wonders and Happy as Lazzaro shares the films that inspire her, including works that allow her to “participate in true genius.”. The Independent Spirit Award–winning director of Premature selects ten masterpieces that introduced him to the beauty of cinema. The FATF Recommendations are the internationally endorsed global standards against money laundering and terrorist financing: they increase transparency and enable countries to successfully take action against illicit use of their financial system. American remakes like “The Magnificent Seven” have tried and failed to do what Kurosawa perfects here, and that’s the blend of action and philosophy that makes “The Seven Samurai” a rare kind of stimulating, thinking man’s epic. Won D, Kim SH, Kim B, Lee ST, Kang HC, Choi JR. Front Neurol. This includes the strong evidence codes PS3 and BS3 for “well-established” functional assays demonstrating a variant has abnormal or normal gene/protein function, respectively. — Jan 28, 2019 Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation. Datasets can be rated by users, and those ratings, among other things, are used for producing recommendations. Available to watch now on FilmStruck. Front Genet. Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution. The directors of MS Slavic 7 pick a selection of favorite films that highlight what they find mysterious and exciting about the cinematic art form. Lalonde E, Rentas S, Lin F, Dulik MC, Skraban CM, Spinner NB. Obayashi’s ghoulish visions take the form of collages, animation and a demonic house cat. Available to watch now on FilmStruck. Navigating the nuances of clinical sequence variant interpretation in Mendelian disease. NIH celebrates the Hollywood classics, cult pleasures, and art-house masterpieces that inspire her, pairing movies that resonate with each other in style and theme. Evaluation of the refined criterion by seven disease-specific groups using heterogeneous types of loss of function variants (n = 56) showed 89% agreement with the new recommendation, while discrepancies in six variants (11%) were appropriately due to disease-specific refinements. Genet Med. Perhaps the most obvious entry on the list, “Mulholland Drive” continues to dominate one poll after the other. On the occasion of the release of her latest film, First Cow, the acclaimed director shares a list of masterpieces that have been touchstones for her throughout her moviegoing life. Staying in a remote cottage, their identities begin to mold, and the two mesmerizing performances are matched by some of the greatest visual poetry Bergman ever brought to screen. Developed and managed by Turner Classic Movies (TCM) in collaboration with the Criterion Collection, FilmStruck features the largest streaming library of contemporary and classic arthouse, indie, foreign and cult films as well as extensive bonus content, filmmaker interviews and rare footage. The award-winning director of Eve’s Bayou and Harriet talks about finding inspiration in psychologically rich character studies and films that break with reality. You will be redirected back to your article in, Get The Latest IndieWire Alerts And Newsletters Delivered Directly To Your Inbox. Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R. Hum Mutat. Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations. The Oscar-winning director of Ida and Cold War walks through key periods in his life that have been shaped by his favorite films, including masterpieces by Godard, Malick, and Tarkovsky. Much of its power comes from Lumet’s visionary eye, which turns Reginald Rose’s teleplay into a cinematic chess game between 12 white jurors who must decide the fate of a Puerto Rican teenager charged with murdering his father. Bill Hader is a Saturday Night Live cast member and has appeared in the films Superbad, Pineapple Express, Adventureland, and Paul, among others. Nearly impossible to describe but excruciatingly terrifying all the same, “House” follows a young school girl and her six friends as they visit her aunt’s home and come face-to-face with supernatural horrors. NMD, nonsense-mediated decay; LoF,…, NLM Epub 2015 Mar 5. No personal Criterion collection is complete without Akira Kurosawa’s three-hour epic “The Seven Samurai.” Starring the legendary Toshiro Mifune and Takashi Shimura, the story follows a ragtag group of warriors who assemble to protect a village from invading bandits. It was great to see many readers listing dramas as diverse and polarizing as Robert Altman’s “3 Women,” George Sluizer’s “The Vanishing” and Fritz Lang’s “M,” but at the end of the day, our survey revealed which 10 titles our Criterion subscribers can’t get enough of. A very recent addition to The Criterion Collection, Guillermo Del Toro’s visionary fairytale “Pan’s Labyrinth” has skyrocketed to the top of Criterion’s most popular titles in just the first month of its availability. Every angle and every shot brings us one step closer to each juror and his relationship to the next. c, Relevant domain indicated by experimental evidence proving a critical role of the domain and/or presence of non-truncating pathogenic variants in the region. Ghosh R, Harrison SM, Rehm HL, Plon SE, Biesecker LG; ClinGen Sequence Variant Interpretation Working Group. Get the latest research from NIH: https://www.nih.gov/coronavirus. Few films make your blood boil quite like Spike Lee’s racial drama “Do the Right Thing,” which ingrains itself in your subconscious and rattles you so much that it’s impossible to let it go. The year 1999 may be this culture critic’s favorite in Hollywood history (he just wrote a book on the subject! An immersion into the racial divide of 1989 Brooklyn (and America, for that matter), “Do the Right Thing” sports colorful characters, memorable monologues and a simmering tension that matches the setting’s scorching hot climate. The film was the first of many collaborations between the director and Liv Ullmann, who plays a mute stage actress being cared for by a young nurse (Bibi Andersson). The Criterion Collection is known for its love of film noir, which makes Charles Laughton’s “The Night of the Hunter” a no-brainer when it comes to the library’s most beloved titles. Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia. Japanese horror film “House” isn’t exactly a title you’d expect to see on a list of beloved films, and yet its iconic Criterion cover and Blu-ray transfer has turned this cult foreign hit into a massively popular Criterion fright fest. Our recommendations will facilitate consistent and accurate interpretation of predicted loss of function variants. Karyn Kusama’s Top 10. 2020 Jun 30;11:612. doi: 10.3389/fneur.2020.00612. This site needs JavaScript to work properly. Sign up for our Email Newsletters here.  |  For her list of favorite Criterion titles, the director of Girlfight and Destroyer celebrates the Hollywood classics, cult pleasures, and art-house masterpieces that inspire her, pairing movies that resonate with each other in style and theme. ACMG/AMP; ClinGen; PVS1; loss of function; variant interpretation. The star of We the Animals and Looking looks back on the movies that expanded his idea of what cinema could be and made him want to be an actor. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Thompson BA, Walters R, Parsons MT, Dumenil T, Drost M, Tiersma Y, Lindor NM, Tavtigian SV, de Wind N, Spurdle AB; InSiGHT Variant Interpretation Committee. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Keywords: U01 HG007436/HG/NHGRI NIH HHS/United States, U41 HG006834/HG/NHGRI NIH HHS/United States, U41 HG009649/HG/NHGRI NIH HHS/United States, U41 HG009650/HG/NHGRI NIH HHS/United States, U01 HG007437/HG/NHGRI NIH HHS/United States, HHSN261200800001E/HG/NHGRI NIH HHS/United States. Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance. The wildly prolific French director, novelist, and playwright celebrates the films that bring him pleasure and confound his understanding. Spike Lee forces you to wake up to the issues around you, and “Do the Right Thing” hasn’t stopped being relevant ever since. Available to watch now on FilmStruck. This Article is related to: Film and tagged FilmStruck, Filmstruck-Custom-Editorial, The Criterion Collection. The director of the acclaimed new film Lingua Franca chooses a selection of movies she loves, including ones that have inspired her to break the rules of genre and narrative. lingers on the weird and wonderful details in some favorite movies. Available to watch now on FilmStruck. A voracious cinephile with wide-ranging taste, the star of Midsommar shares a list of favorite films that shows his particular affinity for the provocative and the macabre. Through memorable characters like Royal Air Force Captain Lionel Mandrake, the inept U.S. President Merkin Muffley, and the wheelchair-bound presidential adviser Dr. Strangelove (who has a secret Nazi past, of course), both Sellers and Kubrick cut to the heart of Cold War anxieties and deranged political communication (which makes it so timeless it hurts). USA.gov. A fever dream of a movie set in Los Angeles, “Mulholland Drive” spins an endless mystery of dark Hollywood satire and identity crisis horror. 2018 Sep;20(9):918-926. doi: 10.1038/s41436-018-0100-y. 2020 Sep;8(9):e1341. “12 Angry Men” is an electrifying look at the American legal system, and it’s more impressive when you consider it was the first feature film Sidney Lumet ever made. In the spirit of a double-feature series at Film at Lincoln Center currently underway, the venerable institution’s director of programming has put together ten pairings that highlight thematic and stylistic parallels throughout our collection.

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