Comprehensive Exome Sequencing Trio Design for Genetic Analysis

May 17, 2025

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Explore Exome-seq Trio Design by Tzu L. Phang, PhD, and Robert Stearman, PhD, with data files and direct download available for Case 1, Case 2, and Case 3. Learn more about Week 14-15 ExomeSeq processing.

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Comprehensive Exome Sequencing Trio Design for Genetic Analysis

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Exome-seq Trio Design Tzu L. Phang PhD Robert Stearman PhD April 30, 2014

Data Files • Case_1_rename.vcf • Case_2_rename.vcf • Case_3_rename.vcf • Week14_15_ExomeSeq_Day2.R • Direct Download: https://www.dropbox.com/sh/0faol5xr68fhs8x/ZcoFluwLgg

Case_1_rename.vcf

SEQ Test

SEQ Test . Has globalisation brought more benefits or ills to countries around the world? Explain your answer. LORMS 1. L3: Explains one perspective, benefit OR ill with clear link to issue. [5-7] L4: L3 + Explains other perspective. BOTH perspective, with clear link to issue. [8-11]

392 views • 16 slides

RNA-Seq

RNA-Seq. An alternative to microarray. Grow cells or isolate tissue (brain, liver, muscle) Isolate total RNA Isolate mRNA from total RNA (poly A+ select) Fragment RNA Make and amplify cDNA Sequence the ends of the cDNA Map the sequences to the human genome

371 views • 17 slides

‘Trio’

‘Trio’. Edwin Morgan. It doesn’t matter what happens after you die; you should only care about what happens in this life. Music is a vital way of improving people’s happiness and mental health. We can only be truly happy if we live in the moment. Without family and friends you cannot be happy.

385 views • 16 slides

Autism exome sequencing: design, data processing and analysis

Autism exome sequencing: design, data processing and analysis. Benjamin Neale Analytic and Translational Genetics Unit, MGH & Medical & Population Genetics Program, Broad Institute. Direct Sequencing has Enormous Potential…. Ng, Shendure : Miller syndrome, 4 cases

726 views • 52 slides

ChIP seq

ChIP seq. Tingwen Chen ( 陳亭妏 ) Bioinformatics center CGU. 5.4.2012. Part I. DNA and Proteins. Histone H istone acetylases Histone deacetylases Chromosome remodelers Transcription factor Meyhlases …. What is ChIP.

980 views • 62 slides

Exome / genome re-sequencing

Raw Illumina reads FASTQ. Exome / genome re-sequencing. Quality control (QC). Filtering. Mapping. Reference annotation. Call variants. Annotate & filter variants. Raw Illumina reads FASTQ. Quality control (QC). Filtering. Mapping. Call variants. Annotate & filter variants.

467 views • 25 slides

Exome-seq Trio Design

Exome-seq Trio Design. Tzu L. Phang PhD Robert Stearman PhD April 30, 2014. Data Files. Case_1_rename.vcf Case_2_rename.vcf Case_3_rename.vcf Week14_15_ExomeSeq_Day2.R Direct Download: https:// www.dropbox.com / sh /0faol5xr68fhs8x/ ZcoFluwLgg. Case_1_rename.vcf.

211 views • 10 slides

Exome-seq Trio Family Design

Exome-seq Trio Family Design. Tzu L Phang PhD Robert Stearman PhD May 5, 2014. Both parents are not sick Progeny is sick Both mutations pass from both parents. Both parents are not sick Progeny is sick Mutation pass from one parents. Both parents are not sick Progeny is sick

227 views • 7 slides

ChIP-Seq

ChIP-Seq. Giulio Pavesi University of Milano giulio.pavesi@unimi.it. Epigenetics. Modern experimental techniques and technologies allow for the genome-wide study of different types of histone modifications, shedding light on the role of each one. “ChIP”.

874 views • 50 slides

ChIP-seq

ChIP-seq. Xiaole Shirley Liu STAT115, STAT215. ChIP-chip/seq Technology. Chromatin ImmunoPrecipitation + microarray or high throughput sequencing Detect genome-wide in vivo location of TF and other DNA-binding proteins Find all the DNA sequences bound by TF-X?

603 views • 30 slides

Using: seq

Using: seq. OPS (5:) seq (. LIST (2 nd STAT). Using: seq. OPS (5:) seq (. Using: seq. Change the increment. sum seq. Math (5:) sum(. LIST (2 nd STAT). sum seq. MATH (5:) SUM(. Estimating with Rectangles. Enter the function. Estimating with Rectangles. LRAM 4 on [2,5].

264 views • 12 slides

SEQ

SEQ. CRESH Trainers Group 21 st April 2010 Dr Chris Warwick. Initial accreditation. 2 year period Requires submission of SEQ Also required submission of EVIDENCE: Some mandatory Some supplimentary Reviewed by patch AD Visit to discuss with Practice Manager Report submitted to TSC.

292 views • 16 slides

SEQ Test

SEQ Test. Has globalisation brought more benefits or ills to countries around the world? Explain your answer. LORMS 1. L3: Explains one perspective, benefit OR ill with clear link to issue. [5-7] L4: L3 + Explains other perspective. BOTH perspective, with clear link to issue. [8-11]

262 views • 16 slides

Trio-Steel

TRIO STEEL IS ONE OF THE MOST TRUSTED BRAND AND LEADING EXPORTER AND SUPPLIER OF CARBON STEEL, ALLOY STEEL & STAINLESS STEEL PIPES & PIPE FITTINGS MATERIAL.

268 views • 15 slides

SEQ Tiling

SEQ Tiling is giving its services in Tiling in Brisbane from last thirty years.The best tilers for your Bathrooms, Pools, Kitchen and Living areas. We also provides the best professional tilers for tiling fixation.

62 views • 2 slides

From Reads to Results Exome-seq analysis at CCBR

From Reads to Results Exome-seq analysis at CCBR. Justin Lack March 8, 2015. Workflow for Data Analysis. Read Generation. Read Mapping. BAM Processing. Variant Calling. Variant Annotation. Workflow for Data Analysis. FASTQ format QC analysis Read trimming. Read Generation.

544 views • 51 slides

ChIP-seq

ChIP-seq. Robert J. Trumbly Department of Biochemistry and Cancer Biology Block Health Science 448, UTHSC 419-383-4347 robert.trumbly@utoledo.edu. ChIP-seq.

476 views • 17 slides

RNA-SEQ

ESTE ARTICULO ES MUY INTERESANTE HABLA DEL RNA SEQ

154 views • 13 slides

clip seq

https://www.creativebiomart.net/CLIP-Seq-Service.htm Mammalian genomes encode over a thousand RNA-binding proteins (RBPs) that play important roles in RNA processing and metabolism. RBPs functions in diverse aspects of co-transcriptional and post-transcriptional regulation of gene expression. In recent years, there have been extensive studies trying to identify and characterize RBPs using high-throughput methods.

136 views • 8 slides

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