Diagnosis made possible with
Whole Exome Sequencing
Whole Exome Sequencing (WES) —
Finding the reason for your patient’s medical condition can be life-changing.
Whole Exome Sequencing (WES) assesses the exome, the set of all protein coding sections within
the human genome. As most genetic conditions are caused by variants found within those exons,
WES provides a higher diagnostic yield compared to Chromosomal Microarray Analysis (CMA) and
targeted panel testing to allow for more clinically actionable insights.
When a patient’s medical history and physical exam strongly suggests an underlying genetic cause, we recommend Whole Exome Sequencing.
Whole exome sequencing (WES) is available to patients who are searching for a unifying diagnosis for multiple medical issues. Unlike older technology where only one gene could be tested at a time, Baylor Genetics uses state-of-the-art technology to study a person’s exome. The exome refers to all our exons, which are the important protein-coding sections of DNA that are contained in our genes. The majority of DNA changes that may cause a genetic disorder are found in exons.
Scientists know what the sentences should say. Sequencing is a technology that looks at each letter in every sentence of DNA in the exome allowing scientists to compare the DNA of a person who has medical issues to the DNA from a person without medical issues. WES simultaneously looks at thousands of portions of genetic material at the same time. However, this technology cannot see all genetic changes that may lead to genetic conditions, which is why additional testing may be recommended. Finding an answer to your patient’s medical condition through whole exome sequencing can be life changing. Results can open options to treatment and additional research opportunities through Baylor College of Medicine.
End Your Patient’s Diagnostic Odyssey
Getting a diagnosis that explains your patient’s symptoms can be life
changing. Results provide treatment options, inform medical management, and open additional research opportunities so you can focus on the best care for your patient.
EARLY DIAGNOSIS FOR PATIENT CARE
- 32% of affected individuals had changes in medical care1
- Save an average of $12k – $15k per patient1
- On average, avoid ~525 days of hospitalizations
- 3 out of 4 families want answers and are in favor of diagnostic tests2
References: 1. Am J Hum Genet.2021 Jul 1; 108(7): 1231–1238; 2. Child Neurology Foundation 2020 Assessment Survey Summary
Indications for Testing
- MULTIPLE CONGENITAL ANOMALIES
- NEURODEVELOPMENTAL DISORDERS
- INTELLECTUAL DISABILITY AND/OR
- DEVELOPMENTAL DELAY
- FAILURE TO THRIVE
- DYSMORPHIC FEATURES
- EPILEPSY SYNDROMES
- EXTENSIVE DIFFERENTIAL DIAGNOSIS
- PREVIOUS GENETIC TESTING UNINFORMATIVE
In the NICU/PICU
With written results as early as five days, consider Rapid Whole Exome Sequencing (rWES) for your patients when a genetic etiology is suspected.
Baylor Genetics Exome Diagnosis Rates
The exome diagnosis rate at Baylor Genetics is approximately 30% for proband or trio exome, and approximately 40% for prenatal trio and critical trio exome. Ordering the exome test with a shorter turn-around time can impact health outcomes in a significant way, especially for younger patients.
Indications for Testing
EXHAUSTED GENETIC TESTING OPTIONS
PATIENTS WITH A LONG LIST OF DIFFERENTIAL DIAGNOSES
ATYPICAL PRESENTATION OF DISEASE
Gene Coverage
- All genes
- Single nucleotide variants/indels in coding regions
- Copy number variants (CNV) >3 exons & homozygous copy number changes of any size
- Depth/Coverage: Average 100x genome-wide
- 2x150bp Sequencing Length: Better mapping for complex genomic regions
- Bioinformatic analysis performed on the newest genome build, GRCh38
Methodology
- Proprietary-developed bioinformatics pipeline
PROBAND WES |
RAPID PROBAND WES |
DUO WES |
RAPID DUO WES |
TRIO WES |
RAPID TRIO WES |
|
Test Code |
1500 |
1729 |
1603 |
1723 |
1600 |
1722 |
Parental Report Included* |
No |
No |
Yes |
Yes |
Yes |
Yes |
TAT (weeks) |
3 |
5 days |
3 |
5 days |
3 |
5 days |
Can Elect to Receive Incidental Finding |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Raw Data Available |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
*Parental Report is only included for certain test codes and if the parent(s) provide a sample. For Duo Whole Exome Sequencing, only one parent is required to submit a sample.
Baylor Genetics is committed to finding answers for you and your patients, which is why we offer companion testing for complementary insights.
To assist with providing answers, our WES includes the following features:
- RNA sequencing (RNAseq), available as a reflex test for WES and Rapid WES (rWES), can help reclassify qualifying variants
- WES Reanalysis (Test Code 1900)
- CMA (Test Code 8665)
- Proband WES + CMA (Test Code 1530)
- Global MAPS® (Test Code 4900 & 4901)
- Comprehensive Mitochondrial DNA (mtDNA) Analysis (Test Code 2055)
- Trio WES + mtDNA (Test Code 1532)
- Trio rWES + mtDNA (Test Code 1533)
- Additional Affected Sibling (Test Code 1602)
Positive Results
Positive or “abnormal” results mean there is a change in the genetic material related to the patient’s medical issues.
Negative Results
Negative results mean no relevant genetic change could be detected using WES. Genetic testing, while highly accurate, might not detect a change present in the genes tested. This can be due to limitations of the information available about the genes being tested, or limitations of the testing technology.
Variants of Uncertain Significance
WES can detect change(s) in DNA that do not have a clear meaning known as a variant of uncertain significance (VUS). Every person has changes in their DNA; not all of these changes cause medical issues. Studies of family members may help resolve the uncertainty. As our understanding of genetics increases, it may also be possible to determine the significance of these variants.
ACMG Secondary Findings
The American College of Medical Genetics (ACMG) has published guidelines for the reporting of medically actionable or secondary findings (PMID:34012068). These guidelines include a list of genes, which are updated occasionally, that are considered medically actionable and indicate laboratories should report pathogenic (disease-causing) findings in these genes. These findings are available on an opt-in basis.
Incidental Findings
Medically actionable variants are changes found in genes known to be associated with disease but not associated with your current symptoms or clinical presentation. These variants are reported as they may cause severe, early-onset disease or may have implications for treatment and prognosis. These findings are available on an opt-in basis.
Potential Clinically Significant Findings in Genes With No Known Disease Association (Trio Only)
Rare variants in candidate genes for which there is limited available evidence of disease association. Relevant rare homozygous, hemizygous, compound heterozygous, and/or de novo variants are reported. The variants reported within this category will be classified as of uncertain significance. Any relevant literature will be referenced when available. Further information would be required to understand if any human disease association exists. These findings are available on an opt-in basis.
RNA Sequencing
RNA Sequencing (RNAseq) is a reflex option to our WES offerings to help reclassify qualifying variants.
Sample Requirements (if additional sample is required) |
|
TAT (days) |
28¶ |
Report |
Provided as an updated (addendum) report |
Blood in EDTA¶ The TAT for RNAseq is calculated from the release date of the WES report or from date of sample receipt if an additional sample is requested by the laboratory.
Prenatal WES Trio is used when prenatal imaging or other testing detects an anomaly that strongly suggests there is an underlying genetic etiology.
INDICATIONS FOR TESTING
- Prenatal ultrasound with abnormal findings
- Positive prenatal screening tests
- Uninformative prior prenatal diagnostic testing
FETAL REPORT INCLUDES:
- Pathogenic or likely pathogenic variants in disease genes related to the prenatal indications
- Variants in disease genes unrelated to the prenatal indications, but likely to cause severe childhood-onset disorders
|
Test Code |
1622 |
|
Accepted Sample Types* |
Amniotic Fluid |
Chorionic Villus Sampling (CVS) |
Cultured Cells |
|
Consent |
REQUIRED FOR ALL SAMPLE TYPES |
|
Parents Needed |
Blood |
OR REQUIRED |
Buccal Swab |
|
TAT (weeks)† |
2 |
|
Can Elect to Receive Incidental Finding |
FETAL |
PARENTAL |
|
Raw Data Available |
|
† Tissue culturing typically takes two weeks to complete. However, this may take longer depending on the quality and/or quantity of sample received by the laboratory.
BLUEPRINT CUSTOM PANEL |
TOTAL BLUEPRINT PANEL |
|
Test Code |
1300 |
1390 |
Parental Report Included |
No |
No |
TAT (weeks) |
3 |
3 |
Can Elect to Receive Incidental Finding |
Yes |
Yes |
Raw Data Available |
Yes |
Yes |
ADULT SCREENING EXOME |
|
Test Code |
1605 |
Parental Report Included |
No |
TAT (weeks) |
3 |
Can Elect to Receive Incidental Finding |
Standard Reporting |
Raw Data Available |
Yes |
PROBAND WES |
RAPID PROBAND WES |
DUO WES |
RAPID DUO WES |
TRIO WES |
RAPID TRIO WES |
BLUEPRINT CUSTOM |
TOTAL BLUEPRINT PANEL |
ADULT SCREENING |
|
Test Code |
1500 |
1729 |
1603 |
1723 |
1600 |
1722 |
1300 |
1390 |
1605 |
Consent |
REQUIRED |
REQUIRED |
REQUIRED |
REQUIRED |
REQUIRED |
REQUIRED |
REQUIRED |
MD ONLY |
REQUIRED |
Parents Needed |
 RECOMMENDED |
RECOMMENDED |
REQUIRED |
REQUIRED |
REQUIRED |
REQUIRED |
RECOMMENDED |
RECOMMENDED |
RECOMMENDED |
Parental Report |
|
|
|
|
|
|
|
|
|
TAT (weeks) |
3 |
5 days |
3 |
5 days |
3 |
5 Days |
3 |
3 |
3 |
Can Elect to |
|
|
|
|
|
|
|
|
Standard Reporting |
Raw Data |
|
|
|
|
|
|
|
|
|
Consent Available in Other Language |
|
|
|
|
|
|
|
|
|
- Saliva
- Blood
Prenatal WES Trio is used when prenatal imaging detects an anomaly that strongly suggests there is an underlying genetic etiology. Prenatal WES Trio is often considered after fetal chromosomal microarray analysis or other prenatal testing has been non-diagnostic.
FETAL REPORT INCLUDES:
• Pathogenic or likely pathogenic variants in disease genes related to the prenatal indications.
• Variants in disease genes unrelated to the prenatal indications, but likely to cause severe childhood-onset disorders.
Test Code |
1622 |
Consent |
REQUIRED |
Parents Needed |
REQUIRED |
Method of Parent Testing |
EXOME |
TAT (weeks) |
2 (not including tissue culture) |
| Can Elect to Receive Incidental Finding |  FETAL |
|
Raw Data Available |
|
Consent Available in Other Language |
|
RNA Sequencing (RNAseq) is a reflex option to our WGS offerings to help reclassify qualifying variants of uncertain significance (VUS).
Sample Requirements (if additional sample is required) |
|
TAT (days) |
28 |
Report |
Provided as an updated (addendum) report |
Rapid WES Testing
When a baby is critically ill, rapid results are necessary. Both biological parents must be available for this test.
Proband Only Testing
Proband WES is an option when biological parents are not available.
Duo Testing
Duo WES is an option when one biological parent is available.
Trio Testing
Trio WES has the highest diagnostic rate of all WES testing options and is available when both biological parents are available.
BluePrint Custom Panel (1300)
The BluePrint panel is a genetic test that enables ordering a customized panel of up to 1,000 genes based on a patient’s clinical symptoms.
Total BluePrint Panel (1390)
The Total BluePrint Panel will analyze all exonic regions of the 4,800 known Mendelian disease-causing genes simultaneously to identify the rare changes in an individual’s DNA that are contributing to your patient’s medical condition.
Adult Screening Exome Sequencing (1605)
The Adult Screening Exome Sequencing test is used when an individual’s medical history and physical exam findings are normal, but the person desires information about the potential future risk of developing a genetic disorder.
Positive Results
Positive or “abnormal” results mean there is a change in the genetic material related to the patient’s medical issues.
Negative Results
Negative results mean no relevant genetic change could be detected using WES. Genetic testing, while highly accurate, might not detect a change present in the genes tested. This can be due to limitations of the information available about the genes being tested, or limitations of the testing technology.
Results of Unclear Significance
WES can detect change(s) in DNA that do not have a clear meaning known as a variant of uncertain significance (VUS). Every person has changes in their DNA; not all of these changes cause medical issues. Studies of family members may help resolve the uncertainty. As our understanding of genetics increases, it may also be possible to determine the significance of these variants.
ACMG Secondary Findings
The American College of Medical Genetics (ACMG) has published guidelines for the reporting of medically actionable or secondary findings (PMID:34012068). These guidelines include a list of genes, which are updated occasionally, that are considered medically actionable and indicate laboratories should report pathogenic (disease-causing) findings in these genes. These findings are available on an opt-in basis.
Potentially Clinical Significant Findings in Genes With No Known Disease Association (Trio Only)
Rare variants in candidate genes for which there is limited available evidence of disease association. Relevant rare homozygous, hemizygous, compound heterozygous, and/or de novo variants are reported. The variants reported within this category will be classified as of uncertain significance. Any relevant literature will be referenced when available. Further information would be required to understand if any human disease association exists. These findings are available on an opt-in basis.
Incidental Findings
Medically actionable variants are changes found in genes known to be associated with disease but not associated with your current symptoms or clinical presentation. These variants are reported as they may cause severe, early-onset disease or may have implications for treatment and prognosis. These findings are available on an opt-in basis.
Diagnosis made possible with WES
Product Overview
Consent Forms
Letters of Medical Necessity
How It Works:
Order appropriate testing for your patient.
The patient’s sample is collected.
The patient’s sample is sent to Baylor Genetics.
Written results are sent to the physician.
Discuss the results with the patient.
More questions? Please contact us by calling 1.800.411.4363.
Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits
Yuan, B., Schulze, K. V., Assia Batzir, N., Sinson, J., Dai, H., Zhu, W., Bocanegra, F., Fong, C. T., Holder, J., Nguyen, J., Schaaf, C. P., Yang, Y., Bi, W., Eng, C., Shaw, C., Lupski, J. R., & Liu, P. (2022). Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. Genome Medicine, 14(1), 113. PMID: 36180924.
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. Chen, C. A., Lattier, J., Kumar, R. D., Meng, L., Liu, P., Miyake, C. Y., Worley, K. C., Bi, W., & Lalani, S. R. American Journal of Medical Genetics. 2022 Sep 6. https://doi.org/10.1002/ajmg.a.62967.
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. Chen CA, Lattier J, Zhu W, Rosenfeld J, Wang L, Scott TM, Du H, Patel V, Dang A, Magoulas P, Streff H, Sebastian J, Svihovec S, Curry K, Delgado MR, Hanchard NA, Lalani S, Marom R, Madan-Khetarpal S, Saenz M, Dai H, Meng L, Xia F, Bi W, Liu P, Posey JE, Scott DA, Lupski JR, Eng CM, Xiao R, Yuan B. Genet Med. 2021 Nov 16; S1098-3600(21)05245-X. PMID: 34906496
Contribution of uniparental disomy in a clinical trio exome cohort of 2,675 patients
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. Wang L, Liu P, Bi W, Sim T, Wang X, Walkiewicz M, Leduc MS, Meng L, Xia F, Eng CM, Yang Y, Yuan B, Dai H. Mol Genet Genomic Med. 2021 Sep 29; e1792. PMID: 34587367.
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Yuan B, Wang L, Liu P, Shaw C, Dai H, Cooper L, Zhu W, Anderson SA, Meng L, Wang X, Wang Y, Xia F, Xiao R, Braxton A, Peacock S, Schmitt E, Ward PA, Vetrini F, He W, Chiang T, Muzny D, Gibbs RA, Beaudet AL, Breman AM, Smith J, Cheung SW, Bacino CA, Eng CM, Yang Y, Lupski JR, Bi W. Genet Med. 2020 Jun 24. PMID: 32576985
Reanalysis of Clinical Exome Sequencing Data
Reanalysis of Clinical Exome Sequencing Data. Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. N Engl J Med. 2019 Jun 20; 380(25):2478-2480. PMID: 31216405
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected mendelian disorder
Normand, E. A., Braxton, A., Nassef, S., Ward, P. A., Vetrini, F., He, W., Patel, V., Qu, C., Westerfield, L. E., Stover, S., Dharmadhikari, A. V., Muzny, D. M., Gibbs, R. A., Dai, H., Meng, L., Wang, X., Xiao, R., Liu, P., Bi, W., Xia, F., … Yang, Y. (2018). Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Medicine, 10(1), 74. https://doi.org/10.1186/s13073-018-0582-x. PMID: 30266093.
Use of exome sequencing for infants in intensive care units: Ascertainment of severe single-gene disorders and effect on medical management
Meng, L., Pammi, M., Saronwala, A., Magoulas, P., Ghazi, A. R., Vetrini, F., Zhang, J., He, W., Dharmadhikari, A. V., Qu, C., Ward, P., Braxton, A., Narayanan, S., Ge, X., Tokita, M. J., Santiago-Sim, T., Dai, H., Chiang, T., Smith, H., Azamian, M. S., … Lalani, S. R. (2017). Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatrics, 171(12), e173438. https://doi.org/10.1001/jamapediatrics.2017.3438. PMID: 28973083.
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders
Bostwick, B. L., McLean, S., Posey, J. E., Streff, H. E., Gripp, K. W., Blesson, A., Powell-Hamilton, N., Tusi, J., Stevenson, D. A., Farrelly, E., Hudgins, L., Yang, Y., Xia, F., Wang, X., Liu, P., Walkiewicz, M., McGuire, M., Grange, D. K., Andrews, M. V., Hummel, M., … Lalani, S. R. (2017) Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Medicine 9:73. PMID: 28807008.
An Organismal CNV Mutator Phenotype Restricted to Early Human Development
An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Liu P, Yuan B, Carvalho CM, Wuster A, Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z, Gelowani V, Writzl K, Bacino CA, Lindsay SJ, Withers M, Gonzaga-Jauregui C, Wiszniewska J, Scull J, Stankiewicz P, Jhangiani SN, Muzny DM, Zhang F, Chen K, Gibbs RA, Rautenstrauss B, Cheung SW, Smith J, Breman A, Shaw CA, Patel A, Hurles ME, Lupski JR. Cell. 2017. Feb 23;168(5):830-842.e7. PMID: 28235197
Prenatal Diagnostic Exome Sequencing: A Review
Westerfield L., Braxton A., Walkiewicz, M. Prenatal Diagnostic Exome Sequencing: A Review. Current Genetic Medicine Reports (2017) 5: 75. https://doi.org/10.1007/s40142-017-0120-y.
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Posey, J. E., Harel, T., Liu, P., Rosenfeld, J. A., James, R. A., Coban Akdemir, Z. H., Walkiewicz, M., Bi, W., Xiao, R., Ding, Y., Xia, F., Beaudet, A. L., Muzny, D. M., Gibbs, R. A., Boerwinkle, E., Eng, C. M., Sutton, V. R., Shaw, C. A., Plon, S. E., Yang, Y., … Lupski, J. R. (2017) Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. New England Journal of Medicine, (1):21. PMID: 27959697
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics
James RA, Campbell IM, Chen ES, Boone PM, Rao MA, Bainbridge MN, Lupski JR, Yang Y, Eng CM, Posey JE, Shaw CA. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Medicine. 2016 Feb 2;8(1):13. PMID: 26838676
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 2016, Genet Med. epub. doi:10.1038/gim.2016.131
Molecular diagnostic experience of whole-exome sequencing in adult patients
Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, Plon SE. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 Jul;18(7):678. PMID: 26633545
Retinal diseases caused by mutations in genes not specifically associated with the clinical diagnosis
Wang X, Feng Y, Li J, Zhang W, et al. (2016) Retinal diseases caused by mutations in genes not specifically associated with the clinical diagnosis. PLoS ONE 11(10): e0165405. PMID: 27788217
Whole Exome Sequencing Identifies the First STRADA Point Mutation in a Patient with Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy Syndrome (PMSE).
Bi W, Glass IA, Muzny DM, Gibbs RA, Eng CM, Yang Y, Sun A. (2016). Whole Exome Sequencing Identifies the First STRADA Point Mutation in a Patient with Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy Syndrome (PMSE). Am J Med Genet A. 170(8):2181-2185. PMID: 27170158
Molecular findings among patients referred for clinical whole exome-sequencing
Yang, Y., Muzny, D. M., Xia, F., Niu, Z., Person, R., Ding, Y., Ward, P., Braxton, A., Wang, M., Buhay, C., Veeraraghavan, N., Hawes, A., Chiang, T., Leduc, M., Beuten, J., Zhang, J., He, W., Scull, J., Willis, A., Landsverk, M., … Eng, C. M. (2014). Molecular findings among patients referred for clinical whole-exome sequencing. JAMA, 312(18), 1870–1879. https://doi.org/10.1001/jama.2014.14601. PMID: 25326635.
Comprehensive analysis of Stargardt macular dystrophy patients reveals new genotype-phenotype correlations and unexpected diagnostic revisions
Zaneveld J, Siddiqui S, Li H, Wang X, et al. (2014) Comprehensive analysis of Stargardt macular dystrophy patients reveals new genotype-phenotype correlations and unexpected diagnostic revisions. Genetics in Medicine 174. PMID: 25474345
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
Wang F, Wang H, Tuan H, Nguyen D, Sun V, Keser V, Bowne SJ, Sullivan LS, Luo H, Zhao L, Wang X, et al. (2013) Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Human Genetics 133, 331-345. PMID: 24154662
Clinical whole exome sequencing for the diagnosis of Mendelian disorders
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon, SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Clinical whole exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med. 2013 Oct ;369(16): 1502. PMID: 24088041