PPT-Use of in silico algorithms for variant interpretation

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ACMGAMP Variant Interpretation guidelines Richards et al 2015 Population Data In silico Data Segregation Data Database Prevalence in affecteds statistically

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Use of in silico algorithms for variant interpretation: Transcript

ACMGAMP Variant Interpretation guidelines Richards et al 2015 Population Data In silico Data Segregation Data Database Prevalence in affecteds statistically increased over controls. Deanna M. Church . Staff Scientist, NCBI. @. deannachurch. Short Course in Medical Genetics 2013. FASTQ. BAM. VCF. VCF. FASTQ. BAM. VCF. VCF. Steve Sherry, NCBI. http://. www.bioplanet.com. /. gcat. http://. Assessment. (Boston College & University of Michigan). Gabor Marth, Goncalo Abecasis, PIs. Informatics challenges for genomic analysis. Tool . building. Facilitating . analysis. . Widening. accessibility. ZOOM ON. . GATK. Cedric Notredame. Adapted from . Yannick. . Boursin. Genetic. . variations. Variations . at the (A) . nucleotide level. . and. (B) . structural level. (C) Single nucleotide . polymorphism . AHMED BAMAGA. MBBS. King Abdulaziz University Hospital. ABG Interpretation. 2. ABG Interpretation. First, does the patient have an acidosis or an alkalosis. Second, what is the primary problem – metabolic or respiratory. -Version 11 Working Group Pagehttps//clinicalgenomeorg/working-groups/sequence-variant-interpretation/Date Approved March 18 2018Changes from v1 Clarified that confirmed/assumed is with regards to par Steven Harrison. June 8 2017. sharrison@bwh.harvard.edu. RASopathies . Developmental . Delay. Cardiovascular. Metabolism. Hereditary Cancer. Sequence Variant Interpretation . WG. Harmonize recommendations for modifying ACMG guidelines. Multiscale. . Analytics. . to. . support. . cancer. . personalized. . diaGnosis. . and. prognosis, . Empowered. by . imaging. . biomarkers. This project has received funding from the European Union’s Horizon 2020 research and innovation . Steven Harrison (. sharrison@bwh.harvard.edu. ). March 22, 2018. SVI. Updates. Reputable source (PP5/BP6) paper. Bayes paper. PVS1 (. LOF. ) recommendation. PS2/PM6 (De novo) recommendation. Reputable Source Letter to the Editor . spatially resolved NK cell signaling model to interrogate . mechanisms of signal integration in human NK cells. Rajdeep. Kaur Grewal. 1. and . Jayajit. Das. 1,2. . 1. Abigail . Wexner. Research Institute at Nationwide Children’s Hospital, . OREGIN 5 21. st. February, 2019. WP3.2 Developing pre-breeding lines from exotic . B. . napus. . and spring oilseed rape. T. arget genes have been . prioritised as part of WP3.3. OREGIN 5 21. st. Plasmodium falciparum . hypervariable multigene family. H. ristina. Vasileva. 16. th. March 2022. MATAMAL intro slide. MSc Medical Microbiology (LSHTM) . MATAMAL. Molecular Biology Researcher. qPCR . bHLH. families reveals candidate transcription factors for secondary metabolic pathways in . Cannabis sativa . L. . Laura Bassolino. 1*. , Matteo Buti. 2. , Flavia Fulvio. 1. , Alessandro Pennesi. 1. 1. The . Folbigg. children. 2. CALEB. PATRICK. SARAH. LAURA. 20 FEB 1989. DIED 19 DAYS OLD. SIDS. 13 FEB 1991. DIED 8 MONTHS. Asphyxia (Epilepsy). 30 AUG 1993. DIED 10 MONTHS. SIDS. 1 MAR 1999. DIED 19 MONTHS. Harriet Feilotter, PhD, FCCMG, FACMG. Professor, Dept of Pathology and Molecular Medicine, Queen’s U. Director, Molecular Genetics, KHSC. 2. Disclosures. I have the following financial relationships to disclose: .

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