For many applications, whole exome sequencing is gaining popularity as a viable and costefective alternative for whole genome sequencing. 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. In general, the test is used when a patients medical history and physical exam findings strongly suggest that there is an underlying genetic etiology. Whole exome sequencing washington state health care authority.
Whole e one sequencing wes is an approach that attempts to sequence only the protein coding genes. A worksheet covering different types of mutations is also included. Pdf a stepbystep beginners protocol for whole genome. Sequencing activity sequencing activity the sentences below tell what happens in the story. Wholegenome sequencing delivers a comprehensive view, ideal for discovery applications. Pdf the use of wholeexome sequencing to disentangle. Exomeseq is a test that looks at most of the genes. Our team of worldrenowned genetics experts focus on finding the genetic cause of each patients medical or developmental problem, guiding them to a. Please fax the completed form and required copies to cigna at 1. 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. This paperwork is available as a fillable pdf that consists of. Instructions for printing the worksheet or answer key. Whole exome sequencing broad institute genomic services. In wes, proteincoding regions of all genes 20,000 of the human genome, i.
Whole genome sequencing rna sequencing exome sequencing figure 3. 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. After viewing each video, students will answer worksheet. Students find the picture that goes with each step of the story. Whole exome sequencing is currently one of the most comprehensive genetic tests available. Policy context whole exome sequencing was selected as a topic for health technology assessment based on high concerns regarding safety and medium.
However, data on the predictive clinical utility of whole genome sequencing wgs or whole exome sequencing wes are minimal, particularly among unselected patients. 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. 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. A guide for patients on whole genome and whole exome sequencing. 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. The library is then hybridized to dna or rna probes corresponding to all exons. Wes is not perfect and does not always give an answer, so other testing may still be recommended. 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. Nextseq series sequencing applicationsthe flexible nextseq series enables researchers to transition seamlessly between sequencing applications to advance their research. 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. Exome sequencing es, or sequencing the proteincoding portions of a human genome, has become an increasingly utilized approach for investigating. 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.
Generate a miseq sample sheet using the illumina experiment manager. Whole exome sequencing searches thousands of genes to identify changes and discover the source of your patients medical condition. Pdf bacterial whole genome sequencing wgs is becoming a. Sequencing reading comprehension worksheet practice a parent or tutor should read to the student and help the student to record their answers.
Whole exome sequencing wes data will be generated and released for the full uk biobank cohort. Bringing nextgeneration sequencing into the classroom through a. 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. 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. 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. 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. Most patients who have whole exome sequencing wes have had other genetic. Browse sequencing events resources on teachers pay teachers, a marketplace trusted by millions of teachers for original educational resources. Wholegenome sequencing using ngs technology delivers comprehensive genetic analysis.
The majority of dna changes that may cause a genetic disorder are found in exons. Exome sequencing involves selective capture and sequencing of these protein coding of the genomeregions. Wholeexome sequencing is a widely used nextgeneration sequencing ngs method that involves sequencing the proteincoding regions of the genome. Sheet corporate social responsibility ihope philanthropic sequencing contact us. Privacy and progress in whole genome sequencing archived. 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. Bgi has performed professional sequencing services for many years at several locations around the world to support human, animal and plant research. Snowman sequence write a paragraph to describe whats going on in the sequence pictures. Pdf introduction the aetiology of congenital hearing loss is heterogeneous, and in many infants a genetic cause is suspected.
Informed consent for whole exome sequencing wes the purpose of this form is to guide the consent process and to supplement the pretest counseling discussion. Your use of this pdf, the bioone web site, and all posted and associated content indicates your acceptance of. Think of genes like sentences in the instruction manual for. Write the number 1 in the box beside what happened first. Recent advances in the development of sequencing technologies provide researchers with unprecedented possibilities for genetic analyses. Whole exome sequencing is a nextgeneration sequencing test that evaluates patients with suspected genetic disorders for germline. 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. Should be a breeze, but if you have trouble check the bottom of this page. Reliable, highquality, whole exome sequencing solutions are available. Ethics and irb issues related to wholeexome sequencing. Genomic dna is extracted and converted into a sequencing library. The proband whole exome sequencing wes test is ordered by a physician and must be accompanied with a consent form and detailed clinical information.
Ordering checklist page 1 patient information pages 24. Genomics as the study of the entire genome all of the dna in an organism. When you are done, just click back on your browser. Sequencing color and cut out the pictures on the next page and glue them into the boxes below in the correct sequence. Whole exome sequencing wes is available to patients who are searching for. Fairy tales sequencing helps teach story comprehension, story recall, and sequencing skills 24 sequencing pages in black and white and in color. How well do whole exome sequencing results correlate with.
A guide for patients on whole genome and whole exome. The phg foundation provides an overview of whole genome sequencing pdf and how it. 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. Pdf a protocol for wholeexome sequencing in newborns 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. 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. Cut out the sentences and glue them into the correct order so the story makes sense. Use ordering words, such as first, then, after that, next, last, or finally. Teachers, allow 10 mins for this task before handing out the answer sheet or showing.
A wes dataset for the first 50,000 uk biobank participants was released in march 2019. Opportunities and challenges of wholegenome and exome. Utility and limitations of exome sequencing as a genetic. What is the difference between whole exome sequencing wes and whole exome. An introduction to nextgeneration sequencing technology. We focus on the opportunities, but also challenges that researchers are.
Wholeexome sequencing wes is a robust and one of the most comprehensive genetic tests to identify the diseasecausing changes in a large variety of genetic disorders. Technical details jim mullikin director, nih intramural sequencing center head, comparative genomics unit whole exome sequencing, why. Ethics and irb issues related to wholeexome sequencing sara c. The decreasing cost and turnaround time of next generation sequencing ngs is accelerating the availability of clinical personal genomes and exomes church, 2005. Comparison of model exome seq and whole genome sequencing experiments. This test may be useful for patients whose medical and family histories suggest a genetic cause for their signs and symptoms. Samples a small blood sample 12 teaspoons is necessary to perform the testing. Are wholeexome and wholegenome sequencing approaches. These regions are known as exons humans have about 180,000 exons, constituting about 1% of the human genome, or.
139 1570 593 978 918 305 132 747 162 30 614 896 380 1309 796 743 1309 1403 813 930 1589 1236 49 539 367 1386 1416 1608 1595 454 260 271 359 1364 1233 689 656 283 1479 520 1111