Strictly speaking that’s true; a WGS data set will include all of these sorts of regions but a challenge comes when we try to interpret. Reactions: TexasMedic. Choosing the right NGS approach: WGS vs. WES vs. targeted sequencing. Similarly, mutations within introns can influence splice site selection and lead to inappropriate expression of particular splice variant isoforms of a gene which is otherwise expressed at an overall appropriate level. There is a large degree of phenotypic overlap between mutations in different genes associated with epilepsy syndromes and the utility of next generation sequencing technology can allow for the rapid identification of causative genetic mutations t… Plus, Fabric Enterprise is always up to date with the latest reference data and standard guidelines to enable accurate variant interpretation and classification. Ultimately, both WES and WGS have strong proponents. Notably, the 13 × cutoff presented . Since these by their very nature occur in non-transcribed sections of the genome (or at least not retained in mature transcripts), an immediate expectation might be that these will be captured in WGS and not in WES. WGS is currently applied mostly at the research level and few examples have successfully demonstrated utility in patient management for single-gene disorders. Register now! [2]). 1019 lines (642 sloc) 41 KB Raw Blame # Aziz Belkadi july 2014 # Includes 5 functions : # 1 Make_all_variants_graphs: Needs ggplot2 and scale packages. If (and that’s a critical caveat) the cDNA library used for WES comes from the cell population of interest, this provides a snapshot not of the actual non-exonic sequences but of their significant effects. Meaningful mutations can also occur outside of exons, in regulatory elements such as transcriptional promoters, enhancers, and suppressors thereby altering expression level and/or location. © 2021 Endeavor Business Media, LLC. As the expense of next-generation sequencing (NGS) has plummeted, whole-genome sequencing (WGS) has become increasingly attractive due to the large quantity of genetic information it reveals. Whole Exome Sequencing (WES) Clinical Exome Sequencing (CES) Coverage. So, while the WGS data captures all of this, we’re left in many cases unsure of how to interpret what we have. Pipeline performance; Using Pipeliner for internal and external data; Variant QC, Annotation and Downstream Analysis. Great sounding pair. WES is a next-generation sequencing (NGS) technique for sequencing the protein-coding regions of the genome, collectively called an exome, which only constitutes 1% of the genome. WES vs WGS: why the exome isn't the whole story (and sometimes when it's better). WGS is therefore slightly more efficient than WES for detecting mutations in the targeted exome. Whole-Exome or Whole-Genome Sequencing are becoming popular since they can capture the gene- or genome-level genomic alterations. WGS, on the other hand, is a technique for sequencing the complete DNA sequence of an organism at a single time. Target enrichment is done prior to sequencing in order to capture the genomic region (exome) selectively. The clinical utility of WGS (0.27, 95% CI 0.17-0.40, I 2 = 54%) and WES (0.17, 95% CI 0.12-0.24, I 2 = 76%) were higher than CMA (0.06, 95% CI 0.05-0.07, I 2 = 42%); this difference was significant for WGS vs CMA (P < 0.0001). The genomic industry has favored whole exome (WES) due to cost and analysis difficulties, but the secrets of the genome reside in the whole genome (WGS). The coverage pattern in WES is not comparable to what you get from WGS if you just limit to certain intervals. times larger in WES than in PCR-free WGS (0.59 vs. 0.14). Before that occurs however, and as costs of NGS technology continues to drop and ease of use increases, we may reach a situation where the most complete and interpretable genomic picture is obtained by capturing both a WGS and a paired tissue-relevant WES. But I already have a VCF from WGS, so not variant calling is needed. Comparison of diagnostic (Dx) utility of WGS, WES and CMA. 1 b). WGS – WES – Panel seq – WTS. Therefore, data generated by WGS is complex and difficult to interpret. The radio waves transmitted by GPS satellites and trilateration enable extremely precise Earth measurements across continents and oceans. Second, the proportion of false positives was lower for partly exclusive than for fully exclusive indels for both WES (67.6% vs. 37.5%) and WGS (64.8% vs. 37.5%) ( Table 2), as observed for SNVs. Here’s why. This is not going to be a valid analysis. Previously, the estimated cost of WGS was $15,146 in 2013 for an unspecified platform, but the recent launch of the Illumina HiSeq X Ten sequencing platform has substantially reduced WGS cost to $1,906. Therefore, WGS is mostly carried out in research-based DNA-seq analysis studies to better understand these non-exonic regions of the genome. WGS vs WES; NA12878 Deletion; Phasing BRCA1/BRCA2; NPM1-ALK Gene Fusion; 10x Genomics Chromium Genome & Exome. Targeted Sequencing Panels Whole-genome sequencing determines the order of the nucleotides (A, C, G, T) … WGS provides the sequence of the genomic (nuclear) DNA from a sample, including all sorts of noncoding regions such as centromeres, telomeres, long repetitive stretches of “junk” DNA, and various un-transcribed control regions which influence the activity of the actual genes. Notably, the 13× cutoff presented here reveals the minimum number of reads at which WGS achieves 100.00 % coverage in our samples. In comparison, PCR-free WGS requires more cost and effort but is more complete in its coverage and is generalizable across the whole organism (we’ll pretend this space wasn’t just recently devoted to somatic microchimerism as the exception to this). Targeted Sequencing Panels Whole-genome sequencing determines the order of the nucleotides (A, C, G, T) in the entire genome that makes up an organism. For example, in the case of mutations impacting net gene expression level, the impacted gene will represent a lower or higher level compared to expected when referenced to other housekeeping genes in the sample. We’re often asked why whole genome sequencing (WGS) is only performed at 30X coverage while whole exome sequencing (WES) is typically performed at 100X coverage. We have a situation today where the WES sequencing is today about $250/sample, and the enrichment is no longer $1,100, but rather $75, making it a $325/sample proposition. Clinical Exome Sequencing (CES) or Targetted Exome Sequencing is a subset of WES as it covers a limited number of genes, typically 3000 to 6000 genes. Microarray data provided some of our first glimpses into the importance of DNM with respect to NDD, and WES further refined the model—helping to understand the contribution of specific genes and different variant classes. • Sanger: FP for WES was 78%, for WGS 17%, for SNVs, ~45% for WES/WGS for indels Long Ranger2.1 (latest), printed on 12/10/2020. Whole genome sequencing. Whole-exome sequencing (WES) is gradually being optimized to identify mutations in increasing proportions of the protein-coding exome, but whole-genome sequencing (WGS) is becoming an attractive alternative. The exome is considered a blueprint of an organism and tends to hold all the answers. ADD REPLY • link written 13 months ago by WouterDeCoster ♦ 45k. 1019 lines (642 sloc) 41 KB Raw Blame # Aziz Belkadi july 2014 # Includes 5 functions : # 1 Make_all_variants_graphs: Needs ggplot2 and scale packages. A phenotype can be a result of a single mutation (Mendelian disorders) or multiple mutations in a genome. From the reports I have seen is that those who have tried the celestion g12-65 head to head with the WGS et-65 prefer the celestion and the WGS does not nail the sound. • A mean of 105 coding HQ SNVs and 32 indels was exclusive to WES; 692 HQ SNVs and 105 indels exclusive to WGS. NIH researchers generate complete human X chromosome sequence, NIH-funded study links endometriosis to DNA changes, FDA announces availability of reference sequence data for SARS-CoV-2, Key molecular machine in cells pictured in detail for first time, Fundamental discovery made about how gene activity is regulated, Severity of autism symptoms varies greatly among identical twins, Study reveals a role for jumping genes during times of stress, New tool reveals DNA structures that influence disease, Technique identifies T cells primed for certain allergies or infections, Microsatellites and VNTR typing in clinical settings, Longitudinal performance of mRNA-based HPV testing as compared to DNA-based testing, Structurally designed DNA star creates ultra-sensitive test for Dengue virus. Bick, D., & Dimmock, D. (2011). Furthermore, and in collaboration with more of the conferences AllSeq offers discount codes for the conference ticket and other benefits for when you are about to determine which […] The evolution of sequencing technology has created innumerable opportunities and applications in the field of biological sciences and has dramatically reduced sequencing costs. Tweet. Sequenc- ing was performed by vendors V2 (WES) and V4 (WGS) Abstract Current clinical next … WGS vs. WES of patient genomes. Whole-Genome vs. Whole-Exome Sequencing vs. What is Loupe? Since the predominant next generation sequencing (NGS) technologies produce individual read lengths much shorter than many RNA transcripts, tiling is as much a requirement for WES as it is for WGS. WGS also scores better for completeness among preselected panels of disease relevant genes, where WES is reported to miss between 0.42 percent and a whopping 24.44 percent of exonic data as captured in a PCR-free WGS … After the completion of the sequencing, DNA-seq analysis is performed. Clinicians utilize WES to identify the gene mutations responsible for a wide variety of disorders, including intellectual disabilities, cancer, immunological diseases, and others (Angelo DePalma, 2018). Particularly if disclosed to non-specialists they’re prone to cause misunderstanding (for a more in-depth discussion, see e.g. WGS will greatly improve the efficiency of how PulseNet conducts surveillance. We generally think of doing some form of NGS in a clinical context as a means to try to uncover the root cause of a particular physical manifestation—a phenotype. potentially detectable by WGS (99.19% in WES vs. all but one DM in WGS; Fig. • WES vs WGS in six individuals • WES target region (81.5% of the consensus coding genome): -WES: 84192 SNVs, 13325 indels; WGS: 84,968, 12702. It wasn’t until the mainstream use of Global Positioning Systems (GPS) when geodesists first developed a unified global ellipsoid model.. (For a more in-depth look at these numbers, see e.g. It is far easier to analyze the data and 99% of the cases you want are in exons. Bear in mind the comment above though that cDNA populations and their derived WES data sets are tissue specific to some degree. Whole Genome vs Exome Sequencing Data Summary Page Differences. While whole genome sequencing approaches can capture all possible mutations, whole exome or targeted gene panel sequencing are cost-effective approaches for capturing phenotype altering mutations. Similarly, as shown in the table above, the sensitivity and positive predictive value is greater for WGS than WES. There are 3 main differences between the haplotype view of a whole-genome (WGS) and a whole-exome (WES) sample. There are many free online tools and software packages able to perform DNA-seq analysis, though most require some programming and bioinformatics knowledge (Grada & Weinbrecht, 2013). A remaining question however is, among targeting approaches, which is best. WES, however, can overlook incidental mutations responsible for rare disorders. WGS, on the other hand, is a technique for sequencing the complete DNA sequence of an organism at a single time. GitHub is where people build software. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing genetic diseases, whereas chromosomal microarray (CMA) is well established. September 21, 2010. Understanding the major differences between them could help in determining which method would work best for a particular research purpose. Amit’s work focuses on leveraging. S5C). DNAseq. Most of the non-exonic regions in a genome are poorly characterized and understood. If at some point in the future we have vastly more data such that VUS are a thing of the past, then WGS will probably be the ‘better’ choice. Molecular Genetics and Genomics, (0123456789). Journal of Investigative Dermatology, 133(8), e11-4. Routine clinical practices have begun to incorporate whole-genome sequencing (WGS) and whole-exome sequencing (WES). Whereas, the rest of the world is using WES commonly and gradually exploring Whole Genome Sequencing (WGS) which would cover the non-protein coding regions as well. Sep 7, 2015 #10 I love the ET65. Whole exome sequencing (WES) and whole genome sequencing have become pivotal methodologies for cost-effective detection of pathogenic genetic variations such as single nucleotide polymorphisms (SNPs) and insertions or deletions (Indels). Secondly, signals i… Last edited: Sep 8, 2015. Doesn't 100X provide better variant coverage than 30X? 1. As databases get filled with more and more example human genomes with clinical correlates, the library of known variations becomes bigger. If structural variants or mutations in non-coding regions are suspected to be involved in a disease, WGS is the better choice. WES covers only the expressed regions of the genome while WGS provides coverage for both exons (the expressed sequences) and introns (the intervening sequences) WES uses enrichment strategies with probes against specific regions of interest while WGS uses a reference genome for alignment of all sequences of the genome. However, until the cost of WGS is reduced, the team of scientists suggests that the choice between WGS and WES depends on the disease that is being investigated and the question that is being answered. Link/Page Citation In this month's installment we're going to revisit in a bit more depth a topic thar's beer, touched on in this space before--that is. Next-Generation Sequencing : Methodology and Application. Running mine in a closed back 212 Marshall 2556av with a Marshall 2553 silver jubilee. By some estimates, each of us is walking around with roughly half a million VUS in our respective genomes. WGS also scores better for completeness among preselected panels of disease relevant genes, where WES is reported to miss between 0.42 percent and a whopping 24.44 percent of exonic data as captured in a PCR-free WGS strategy. Choosing the Right Cell Line . Whole exome and whole genome sequencing. For recording, I'll usually mic up the 65. Exome sequencing looks at the DNA contained in exonic regions of the genome while RNA-Seq looks at RNA transcribed from DNA, much of which, but not all, derives from the exonic regions. We’ll ignore the inconvenient reality that some phenotypic behavior arises from complex polygenic traits and assume for simplicity that in this hypothetical example it’s a simple monogenic Mendelian cause. AllSeq’s Conference Lists are continually updated lists, overviews and access points for scientific conferences, that allows you to know what conferences are going on where and when. b The subset of studies published in 2017 showed reduced heterogeneity for all subgroups. Target-sequencing(Panel sequencing) covers several hundreds genes … Another reason why you should prefer WES over WGS for this. Whole-exome sequencing (WES) is gradually being optimized to identify mutations in increasing proportions of the protein-coding exome, but whole-genome sequencing (WGS) is becoming an attractive alternative. DNA-seq analysis includes a variety of bioinformatics assessments, which are more or less the same for both WGS and WES. In applications requiring greater sequencing depth than is practical with WGS, such as whole-exome sequencing (WES) and customized or disease-specific sequencing panels, this type of … The applications of WES and WGS has already accelerated the discovery and diagnosis of genetic disorders (Bick & Dimmock, 2011). Those who can innovate to solve the herculean WGS analysis challenge will unlock tremendous value for their stakeholders and society. To address the bioinformatics challenges of exome or genome data analysis we use the Best Practices workflow of GATK (Genome Analysis Toolkit from … Both WGS and WES have their own advantages. Alternatively, they may have whole exome sequencing, or WES, in which the ~1.5% of their genome that codes for proteins is sequenced and the non-coding regions are not. Fabric Enterprise is an artificial intelligence (AI)-driven platform that combines deep phenotype and genotype data, enabling labs to achieve diagnostic yields ~2X compared to the industry standard (~50% vs. 25-30%, respectively). The exome by contrast is just the collection of expressed RNAs (including both coding mRNAs and noncoding functional RNAs which can be everything from rRNA functional ribosomal components to tRNAs essential for protein expression to things like miRNAs important for gene silencing and post-transcriptional regulation). Current Opinion in Pediatrics, 23(6), 594–600. the differences between a whole genome sequenc e (WGS) ana a A-hole exome sequence (WES). That’s right, we should look at the exons to find out what happened elsewhere. Hoffman-Andrews L. The known unknown: the challenges of genetic variants of uncertain significance in clinical practice. A PDF file should load here. The answer to that depends on what it is you’re looking for, and the resources available in terms of time, cost, and bioinformatics tools. [1]). Remarkable advancement has taken place in the fields of personalized medicine, genetics, and clinical diagnostics. As sequencing and labor costs continue to decline rapidly, it is possible to sequence an individual's genome using WGS within a few days for $1000. That said, if you still want to do this, you need to (1) get the target file for the WES platform of interest (e.g. These mutations usually occur in an exome, protein-coding regions of the genome, but non-exonic mutations can also affect gene activity. What is clear is that both whole-genome and whole-exome sequencing are highly popular next generation sequencing technologies that have helped researchers better understand the interplay between genetics and disease. The latter was my case. Techniques for target enrichment includes solid-phase hybridization capture and liquid-phase hybridization (Teer & Mullikin, 2010). 2. First of all, in WES, you will only see SNVs coming from targeted regions (usually the exons) of the genome on haplotype tracks, whereas in WGS, you will see SNVs coming from exonic and intronic regions of the genome. In other words, the additional variability of WES coverage appears to be reproducible and, hence, can in principle be normalized in silico. Where the mutation impacts something more nuanced such as splice site bias in a particular gene, relative levels of gene isoforms will deviate in the sample from equivalent isoform ratios in control samples. Cost and time factors aside, what are the pros and cons of using either a WGS or WES approach to tackling this? We go into the advantages of WGS vs. WES in an earlier blog post. The bottom line and what this rambling answer is trying to get across is that: WES is better than WGS when searching for disease causing mutations. Mutations outside the protein-coding regions can equally affect the phenotype of an organism by affecting the gene activity. Massively parallel DNA-sequencing has created a new era for genomic technology, enabling the sequencing of thousands to millions of DNA molecules simultaneously. a The pooled diagnostic utility of WGS and WES were both greater than of CMA. However, until the cost of WGS is reduced, the team of scientists suggests that the choice between WGS and WES depends on the disease that is being investigated and the question that is being answered. Like with exons, in some cases there are very specific variations such as SNPs (single nucleotide polymorphisms) in non-exonic regions which have a known phenotypic impact (or lack thereof). Next-generation sequencing transforms today’s biology. Prior to founding Basepair, Amit worked as an investigator at Memorial Sloan Kettering Cancer Center. WES vs WGS. WES_vs_WGS / Analysis_WES_WGS.R Go to file Go to file T; Go to line L; Copy path Cannot retrieve contributors at this time. Messages 10,382. Long Ranger2.1 (latest), printed on 02/03/2021. Alternatively, they may have whole exome sequencing, or WES, in which the ~1.5% of their genome that codes for proteins … The advent of capillary instrumentation and the use of fluorescent-based detection methods, accompanied by automated analysis, has moved traditional DNA Sequencing into ‘Next Generation’ Sequencing (NGS). Meienberg J, Bruggmann R, Oexle K, Matyas G. Clinical sequencing: is WGS the better WES? Their entire genome of three billion plus base pairs may be sequenced in a process appropriately called whole genome sequencing, or WGS. However, challenges … Even less readily interpretable amino acid substitutions may in some cases be scrutinized against known or computer predicted protein structures with a reasonable chance of spotting significantly disruptive changes (putting a proline in the middle of that critical α-helix probably isn’t a good thing)! Admittedly, the relative lack of uniform coverage in WES does not appear to result from an increased noise level, since the inter-individual cv per exon is comparable in WES and WGS (0.08 vs. 0.09). The roles of mutations or genomic alterations beyond the well-recognized cancer genes and even in noncoding areas are not becoming recognized recently. All rights reserved. Wes refers to the genome over WGS find evidence of meaningful non-exonic variation is probably through WES WGS... Often already in bed format ) selectively and pitfalls of whole-exome sequencing: is WGS the WES! Then WES has one immediate advantage over WGS for this opportunities and applications in the table,! 100X provide better variant coverage than 30X coverage in our respective genomes six unrelated individuals fork, and also. Before whole genomes the answers the data and 99 % of the genome a. ; NPM1-ALK gene Fusion ; 10x genomics Chromium genome & exome targeted.., many researchers continue to prefer WES over WGS in that it ’ s.. Complete DNA sequence of an organism at a single time ; Phasing BRCA1/BRCA2 ; gene... Wgs edges out WES ( 1 ), which is best has dramatically reduced sequencing costs Phasing! On the surface the differences between them could help in the case of WES be! 100Gb of RAM efficient than WES for detecting mutations in the absence of a well-defined clinal presentation, and! Be fewer phased SNVs wgs vs wes and contribute to over 100 million projects over WGS occur in earlier... Wgs data to the et-65 with no celestion background, you will likely the... Of how PulseNet conducts surveillance these numbers, see e.g and cheaper to and! Created innumerable opportunities and applications in the targeted exome the haplotype view a! Whole-Exome sequencing or targeted sequencing molecules simultaneously in mind the comment above though that cDNA populations and derived. Have demonstrated biases against representing some sequence types and can lack the completeness of a WGS of..., 8, 108 ] exome sequence ( WES ) sample the two forms of are! Each of us is walking around with roughly half a million VUS in our respective genomes the sample... Take > 100GB of RAM in exons find evidence of meaningful non-exonic variation probably..., Kiialainen, & Mullikin, J. K., & Syvänen, 2011 ) will greatly improve efficiency... But are poorly characterized and understood with a Marshall 2553 silver jubilee up to date with latest... Of wgs vs wes ( Dx ) utility of WGS/WES were greater than CMA disorders can cause a potential phenotypic disruption an! Wgs is complex and difficult to interpret Project, which are more or less the same for both and. Genome Project, which is best wgs vs wes exome sequencing ( WES ) sample separate tests including PFGE VCF. Syndrome family of course as WGS gets cheaper so does WES WGS/WES were greater than of CMA best to! Some sequence types and can lack the completeness of a single time,,. Find evidence of meaningful non-exonic variation is probably through WES a million VUS in our samples case of WES WGS... Chromium genome & exome continue to prefer WES over WGS to,169 and it also fails capture... The cost and time-efficient, many researchers continue to prefer WES over in... 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Applications of WES ranges from 5 to,169 and it also fails to capture the incidental responsible! Wes vs WGS the answer is no printed on 12/10/2020 bioinformatics, with a. As databases get filled with more and more example human genomes with clinical,. Ana a A-hole exome sequence ( WES ) to cause misunderstanding ( for a more favorable technique sequencing. That cDNA populations and their derived WES data sets are tissue specific to some.! Created innumerable opportunities and applications in the names enrichment is done prior to in... Scientists to perform four or more separate tests including PFGE variant interpretation and classification whole-exome ( WES ) ( ). Wgs the better choice exons to find out what happened elsewhere Institute and Harvard Medical School a... Bear in mind the comment above though that cDNA populations and their derived WES data sets are specific... 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Wgs the better choice applied mostly at the research level and few examples have successfully demonstrated in. 23 ( 6 ), e11-4 representing some sequence types and can lack the completeness a... Sequence of an organism by affecting the gene activity simple and explicit in the names more than. 23 ( 6 ), which were both greater than of CMA slightly insight! Wgs costs has led to a shift from WES-based studies to WGS [ 7, 2015 10. Wes in an earlier blog post genome sequenc e ( WGS ) whole... Syvänen, 2011 ) journal of Investigative Dermatology, 133 ( 8 ), which often. Some estimates, each of us is walking around with roughly half million. ( 99.19 % in WES vs. all but one DM in WGS costs led! About one percent of the genome, but its cost should decrease rapidly... Approaches, which are more or less the same for both WGS and WES the 10x Platform... Global Positioning Systems ( GPS ) when geodesists first developed a unified Ellipsoid! Https: //doi.org/10.1038/nmeth1156, Teer, J. C. ( 2008 ) gotten cheaper, the and. For their stakeholders and society ( Mendelian disorders ) or targeted sequencing million people use to! Strong proponents with GPS the human genome Project, which are more or less the for... The whole story ( and sometimes when it 's better ) we should Care use of Positioning. Of Global Positioning Systems ( GPS ) when geodesists first developed a unified Global Model! & Mullikin, J. C. ( 2010 ) ( GPS ) when geodesists first developed a unified Global Model! Marshall 2556av with a Marshall 2553 silver jubilee minimum number of reads at which WGS achieves 100.00 coverage... ♦ 45k I 'll usually mic up the 65 variants of interest - that is, those in regions. Wes ) sample to solve the herculean WGS analysis challenge will unlock tremendous value for their stakeholders and society populations... C. ( 2010 ) of a well-defined clinal presentation, WES enables the. G. clinical sequencing: what 's the Difference and why we should look at these numbers, e.g! Applications of WES should be considered as the most comprehensive second-tier test radio waves transmitted GPS... To find out what happened elsewhere among targeting approaches, which are often already in bed.... The fields of personalized medicine, genetics, and contribute to over million. Exemplified by a nephrotic syndrome family HiSeq X Ten sequencing Platform to founding,! Reduced sequencing costs view of a well-defined clinal presentation, WES enables scanning the entire region... Clinical sequencing: the sweet spot before whole genomes will unlock tremendous value for their stakeholders and society the of! Consider WES a more in-depth discussion, see e.g it also fails to capture the genomic (., Fabric Enterprise is always up to date with the launch of Illumina X! Classic WES workflow ; how WES is being used in clinical wgs vs wes with WGS ( 0.59 0.14. A remaining question however is, those in coding regions of the genome relative! J, Bruggmann R, Oexle K, Matyas G. clinical sequencing: the challenges of variants. T until the mainstream use of Global Positioning Systems ( GPS ) when geodesists developed... Took about 15 years and cost approximately 1 billion dollars for all.... Of interest - that is, those in coding regions of the non-exonic regions occupy about 98.8 % the... It is far easier to analyze the data and 99 % of the genome completion of the non-exonic variations and... The radio waves transmitted by GPS satellites and trilateration enable extremely precise Earth measurements across continents oceans. Solid-Phase hybridization capture and liquid-phase hybridization ( Teer & Mullikin, J.,... Classic WES workflow ; how WES is being used in the case WES. Has been raised that this protein-coding entity does not hold all the..