PPT-Methodologies for Structural Variant detection

Author : delcy | Published Date : 2024-06-10

Fritz Sedlazeck Jan12 2024 Population ADSP CCDG Topmed Han Chinese AllOfUs CARD SMAHT UAE Algorithms DRAGEN in review Sniffles2 2024 TRGT 2024 Read2Tree 2023 Truvari

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Methodologies for Structural Variant detection : Transcript

Fritz Sedlazeck Jan12 2024 Population ADSP CCDG Topmed Han Chinese AllOfUs CARD SMAHT UAE Algorithms DRAGEN in review Sniffles2 2024 TRGT 2024 Read2Tree 2023 Truvari 2022. In this study we investigate the applic tion of multiplex fluorescent detection for three proteins on the sam Western blot using a laserscanning imaging system the BioRa Molecular Image FX We show that independent detection an quantitation of multip Presented by Derek Bickhart. Presentation Outline. Variant classification and detection. Theory on read structure and bias. Simulations and real data. Genetic . Variation. Single nucleotide variations – SNP (human . 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://. Variant Calling. Ramesh Nair. 9/12/2012. Outline. Types of genetic variation. Framework for variant discovery. Variant calling methods and variant callers. Filtering of variants. Structural variants. Variant Calling and Structural Variants from . Exomes. /WGS. Ramesh Nair. May 30, 2014. Outline. Types of genetic variation. Framework for variant discovery. Variant calling methods and variant callers. 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 . -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. Presented by Derek Bickhart. Presentation Outline. Variant classification and detection. Theory on read structure and bias. Simulations and real data. Genetic . Variation. Single nucleotide variations – SNP (human . 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 . Exomes. /WGS. Ramesh Nair. May 31, 2013. Outline. Types of genetic variation. Framework for variant discovery. Variant calling methods and variant callers. Filtering of variants. Structural variants. Ramesh Nair. 9/12/2012. Outline. Types of genetic variation. Framework for variant discovery. Variant calling methods and variant callers. Filtering of variants. Structural variants. 9/12/2012. Variant Calling. Alexandre . Gillet-. Markowska. Alexandre.gillet-markowska@upmc.fr. Gilles Fischer Team – . Biology. of . Genomes. . UMR7238. Laboratory . of Computational and Quantitative Biology. Université Pierre et Marie-Curie, Paris.

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