Whole exome sequencing pdf worksheet answers

Teachers, allow 10 mins for this task before handing out the answer sheet or showing. The human exome represents less than 2% of the genome, but contains 85% of known diseaserelated variants, 1 making this method a costeffective alternative to whole genome sequencing. The rapid development of genomic sequencing and techniques such as massively parallel nextgeneration sequencing has decreased cost, improved efficiency, and increased the clinical and research use of genetic testing 1, 2. You are encouraged to ask any questions about this test, including questions about alternative testing. Whole exome sequencing washington state health care authority. When you are done, just click back on your browser. How well do whole exome sequencing results correlate with.

Quality correlates with coverage 0 100 200 300 400 500 600 700 800 900 50m 60m 70m 80m e read count all snvs exome only 30 36 42 48 50m 60m 70m 80m. Use ordering words, such as first, then, after that, next, last, or finally. Your use of this pdf, the bioone web site, and all posted and associated content indicates your acceptance of. This test may be useful for patients whose medical and family histories suggest a genetic cause for their signs and symptoms.

An introduction to nextgeneration sequencing technology. Samples a small blood sample 12 teaspoons is necessary to perform the testing. Privacy and progress in whole genome sequencing archived. We focus on the opportunities, but also challenges that researchers are. Whole exome and whole genome sequencing page 2 of 14 unitedhealthcare oxford clinical policy effective 03012018 19962018, oxford health plans, llc benefit considerations before using this policy, please check the member specific benefit plan. In wes, proteincoding regions of all genes 20,000 of the human genome, i. With current technology, we are able to analyze approximately 96% of the exome, which includes approximately 99% coverage for over 4,500 genes that have previously been associated with disease. What is the difference between whole exome sequencing wes and whole exome. Wholegenome sequencing using ngs technology delivers comprehensive genetic analysis.

Comparison of model exome seq and whole genome sequencing experiments. Sequencing is putting things in order, from first to last. In addition, the test includes 1500 selected noncoding, deep intronic disease causing variants listed in appendix 8 in the electronic version of the exome report the sequencing data generated in our laboratory is analyzed with our proprietary data analysis and annotation pipeline. Exome sequencing is simply a special form of target enrichment, a sequence preparation strategy that pulls out genetic elements of inter est prior to decoding them. The library is then hybridized to dna or rna probes corresponding to all exons. The proband whole exome sequencing wes test is ordered by a physician and must be accompanied with a consent form and detailed clinical information. Students find the picture that goes with each step of the story. Whole e one sequencing wes is an approach that attempts to sequence only the protein coding genes. Whole exome sequencing wes is available to patients who are searching for. Genomic dna is extracted and converted into a sequencing library. Pdf bacterial whole genome sequencing wgs is becoming a. Are wholeexome and wholegenome sequencing approaches. Technical details jim mullikin director, nih intramural sequencing center head, comparative genomics unit whole exome sequencing, why. The use of whole exome sequencing to disentangle complex phenotypes article pdf available in european journal of human genetics 242 june 2015 with 108 reads how we measure reads.

However, data on the predictive clinical utility of whole genome sequencing wgs or whole exome sequencing wes are minimal, particularly among unselected patients. The decreasing cost and turnaround time of next generation sequencing ngs is accelerating the availability of clinical personal genomes and exomes church, 2005. Bringing nextgeneration sequencing into the classroom through a. Fairy tales sequencing helps teach story comprehension, story recall, and sequencing skills 24 sequencing pages in black and white and in color. Our team of worldrenowned genetics experts focus on finding the genetic cause of each patients medical or developmental problem, guiding them to a. Whole exome sequencing broad institute genomic services. Most patients who have whole exome sequencing wes have had other genetic. Whole genome sequencing rna sequencing exome sequencing figure 3. Whole exome sequencing recommendation form this form, along with a threegeneration pedigree, copy of the ordering health care professionals laboratory requisition form, and a copy of your genetics evaluation documentation are required for consideration of this request. Write the number 1 in the box beside what happened first. A wes dataset for the first 50,000 uk biobank participants was released in march 2019.

Focuses on the part of the genome we understand best, the exons of genes exomes are ideal to help us understand highpenetrance allelic variation and its relationship to phenotype. Ethics and irb issues related to wholeexome sequencing sara c. One test, more answers with whole exome sequencing when a patients medical history and physical exam strongly suggests an underlying genetic cause, we recommend whole exome sequencing. Instructions for printing the worksheet or answer key.

These regions are known as exons humans have about 180,000 exons, constituting about 1% of the human genome, or. For many applications, whole exome sequencing is gaining popularity as a viable and costefective alternative for whole genome sequencing. Please fax the completed form and required copies to cigna at 1. Whole exome sequencing is a nextgeneration sequencing test that evaluates patients with suspected genetic disorders for germline. Policy context whole exome sequencing was selected as a topic for health technology assessment based on high concerns regarding safety and medium.

Whole exome sequencing is currently one of the most comprehensive genetic tests available. Pdf a protocol for wholeexome sequencing in newborns with. Whole exome sequencing searches thousands of genes to identify changes and discover the source of your patients medical condition. Sequencing activity sequencing activity the sentences below tell what happens in the story. Browse sequencing events resources on teachers pay teachers, a marketplace trusted by millions of teachers for original educational resources.

Generate a miseq sample sheet using the illumina experiment manager. Utility and limitations of exome sequencing as a genetic. Recent advances in the development of sequencing technologies provide researchers with unprecedented possibilities for genetic analyses. Bgi has performed professional sequencing services for many years at several locations around the world to support human, animal and plant research. Whole exome sequencing is a highly complex test that is newly developed for the identification of changes in a patients dna that are causative or related to their medical concerns. A guide for patients on whole genome and whole exome sequencing.

Wholegenome sequencing delivers a comprehensive view, ideal for discovery applications. In general, the test is used when a patients medical history and physical exam findings strongly suggest that there is an underlying genetic etiology. Exome sequencing involves selective capture and sequencing of these protein coding of the genomeregions. Wes is not perfect and does not always give an answer, so other testing may still be recommended.

Whole exome sequencing wes data will be generated and released for the full uk biobank cohort. Hull, phd director, nhgri bioethics core faculty, cc department of bioethics national institutes of health disclaimer the following presentation does not necessarily reflect the official views of the nhgri, nih, or dhhs. Nextseq series sequencing applicationsthe flexible nextseq series enables researchers to transition seamlessly between sequencing applications to advance their research. Pdf the use of wholeexome sequencing to disentangle. A worksheet covering different types of mutations is also included.

This paperwork is available as a fillable pdf that consists of. After viewing each video, students will answer worksheet. Genomics as the study of the entire genome all of the dna in an organism. Patient with a phenotype or family history that strongly suggests an underlying genetic cause, yet genetic tests for that phenotype have failed to arrive at a diagnosis diagnostic odyssey patient. Snowman sequence write a paragraph to describe whats going on in the sequence pictures. Wholeexome sequencing is a widely used nextgeneration sequencing ngs method that involves sequencing the proteincoding regions of the genome. Exome sequencing, also known as whole exome sequencing wes, is a genomic technique for sequencing all of the proteincoding regions of genes in a genome known as the exome. Whole exome sequencing wes your doctor may suggest your child have wes if other testing has not provided a reason for your childs health problems. Opportunities and challenges of wholegenome and exome. Sequencing reading comprehension worksheet practice a parent or tutor should read to the student and help the student to record their answers. A guide for patients on whole genome and whole exome. Sheet corporate social responsibility ihope philanthropic sequencing contact us.

Genome sequencing involves producing and organizing short overlapping dna sequences. Exomeseq is a test that looks at most of the genes. Should be a breeze, but if you have trouble check the bottom of this page. Dna sequencing worksheet 20 pts, group assignment one of the goals of our dna sequencing exercise, along with giving you firsthand experience in how it is done and how the data is manipulated, is to demonstrate the concept that phenotype can be inferred by genotype. The first exome sequencing was published in 2009 report2. In contrast to current sequencing tests that analyze one gene or small groups of related genes at a time, whole exome sequencing analyzes the exons or. Pdf a stepbystep beginners protocol for whole genome. Think of genes like sentences in the instruction manual for. Pdf introduction the aetiology of congenital hearing loss is heterogeneous, and in many infants a genetic cause is suspected. Exome sequencing es, or sequencing the proteincoding portions of a human genome, has become an increasingly utilized approach for investigating. Ordering checklist page 1 patient information pages 24. The majority of dna changes that may cause a genetic disorder are found in exons. The phg foundation provides an overview of whole genome sequencing pdf and how it.