Learn more about what PerkinElmer Genomics is up to by reviewing our recent scientific abstracts and posters.
Poster Presentations
P634 Development of a Hemolysis Index for Vanadis® cfDNA NIPT Sample Acceptance
P502 How Does Multiomics Help Variant Reclassification?
P476 Identification and accurate sizing of D4Z4 repeat units in patients suspected of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping.
P566 Importance Of Parental Segregation Studies and its Role in Variant Classification
P157 Efficiency of Genome Sequencing in Establishing Molecular Diagnosis in Undiagnosed Patients
P441 Genomic and Biochemical Profile of Pseudodeficiency in Lysosomal Storage Disorders
eP032 Measurement of nicotinamide adenine dinucleotide from dried blood spot cards
eP355 Repeat expansion disorders screening by WGS: strategy and stumbling blocks
eP372 Fast forward – is multiomics a resurgence of old?
eP411 Tackling the COVID-19 pandemic by utilizing next generation sequencing technologies
eP469 Improved Vanadis® cfDNA platform for detection of T13, T18 and sex chromosome abnormalities
eP487 Universal newborn screening of congenital cytomegalovirus using dried blood spots and qPCR
eP490 A united front on tackling a pandemic – the true value of industry and government partnerships
eP498 Detection of congenital cytomegalovirus infection on high-risk newborn population
eP368: Towards Implementation Whole Genome Sequencing as a First Tier Test in Genomic Testing
eP370: Facioscapulohumeral Muscular Dystrophy Genetic Testing by Optic Mapping
eP394: Genome and Exome Analysis for Detection of Coding and Non-Coding Sequencing and Copy Number Variants in Disorders of Sexual Development (DSD)
eP412: Genetic Screening of a Reportedly Healthy Population for Familial Hypercholesterolemia
eP433: Reducing the Time to Diagnosis for Spinal Muscular Atrophy
eP491: Non-invasive prenatal screening by Vanadis LifeCycle® Platform
Poster 694: Nallamilli et al. Results from comprehensive NGS based assay lays the foundation for the DMD newborn screening
Poster 695: Xie et al. Integrated Analyses of Sequence Variant, Copy Number Variant and Absence of Heterozygosity from a Singular Assay Demonstrate Improved Diagnostic Yield in >1000 Cases
Poster 697: Wang et al. Pseudodeficiency Alleles, Late-onset Diseases, Equivocal Biochemical Screens: Lessons Learned from Newborn Screening Second Tier Molecular Testing for Lysosomal Storage Diseases
Poster 774: Valencia et. al. CNGnomeTM: Compared to CMA, higher resolution detection of copy number variant (CNV) by low coverage whole genome data
Poster 812: Smith et al. Comprehensive Clinical Testing for Spinal Muscular Atrophy (SMA)
Poster 959: Hegde et al. Whole Genome Sequencing (WGS) in the Healthy Newborns and Adults- Results from first 150 cases
Lin et al. A qPCR Assay for Newborn Screening of Spinal Muscular Atrophy (SMA).
Liu et al. ABCD1 Molecular Testing For Second-Tier Confirmatory Newborn Screening.
Smith et al. Multiplexed Measurement of Enzyme Activities Associated with Seven Lysosomal Storage Disorders from a Dried Blood Spot via LC-MS/MS.
Leighton et al. Global Trends in Genomic Medicine: Lessons learned and best practices from US, China and India.
Wang et al. Newborn screening second tier molecular testing: What are we learning from MPS I and Pompe disease?
Nallamilli et al. Largest Gene-panel Sequencing Effort Including 4656 Patients Reveals Genetic Landscape of Limb-Girdle Muscular Dystrophies and Potential Multi-genic Inheritance.
Valencia et al. A validation study of copy number variant (CNVs) detection to replace constitutional microarray from low resolution whole genome sequencing data.
Tanner et al. From Newborn Screening to Newborn Genome Sequencing: Combining the Power of WGS with Cord Blood Storage Through the Generation™ Program.
Kesari et al. Calpainopathy-Changing Paradigm of mode of inheritance.
Irzyk et al. Clinical whole genome sequencing: a validation study.
Collins et al. Clinical grade whole genome sequencing data from various samples types: dried blood spot, whole blood, saliva and tumor tissue.
Ma et al. Preliminary study for whole genome sequencing from dried blood spots using high throughput linked-read sequencing compared to short read sequencing
Ruosaari et al. Screening of Metabolic Disorder using NMR Metabolomics and Whole Genome Sequencing. (Partner Poster)
Catch-up on recent publications from the PerkinElmer Genomics team.
Recent Manuscripts
Khadilkar SV, Chaudhari AD, Singla MB, Dastur RS, Gaitonde PS, Bhutada AG, Hegde MR. Early and Consistent Pattern of Proximal Weakness in GNE Myopathy. Muscle Nerve. 2020 Nov 16. doi: 10.1002/mus.27117. Epub ahead of print. PMID: 33197058.
Chakravorty S, Nallamilli B, Khadilkar S, Singla MB, et al., Hegde M Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent. (2020) Front. Neurol. 2020 Nov 5. doi: 10.3389/fneur.2020.559327 PMID: 33250842 PMCID: PMC7674836
Shen JJ, Wortmann SB, de Boer L, Kluijtmans LAJ, Huigen MCDG, Koch J, Ross S, Collins CD, van der Lee R, van Karnebeek CDM, Hegde MR. The role of clinical response to treatment in determining pathogenicity of genomic variants. Genet Med. 2020 Oct 22. doi: 10.1038/s41436-020-00996-9. Epub ahead of print. PMID: 33087887.
Nallamilli BRR, Chakravorty S, Kesari A, Bean L, Hegde M. Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy. (2020) Ann Clin Transl Neurol. 2020 Oct 15. doi: 10.1002/acn3.51192. PMID: 33058423 PMCID: PMC7732248
Chaubey A, Shenoy S, Mathur A, Ma Z, Valencia CA, Reddy Nallamilli BR, Szekeres E Jr, Stansberry L, Liu R, Hegde MR. Low-Pass Genome Sequencing: Validation and Diagnostic Utility from 409 Clinical Cases of Low-Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray. J Mol Diagn. 2020 Jun;22(6):823-840. PMID: 32344035
Hagenkord J, Funke B, Qian E, Hegde M, Jacobs KB, Ferber M, Lebo M, Buchanan A, Bick D. Design and Reporting Considerations for Genetic Screening Tests. J Mol Diagn. 2020 May;22(5):599-609. doi: 10.1016/j.jmoldx.2020.01.014. Epub 2020 Feb 22. PMID: 32092541
Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, Dubrovsky A, Franca MC Jr, Vargas S, Hegde M, Claeys KG, Straub V, Daba N, Faria R, Periquet M, Sparks S, Thibault N, Araujo R. The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease. Orphanet J Rare Dis. 2020 Jan 13;15(1):11. doi: 10.1186/s13023-019-1291-2. PMID: 31931849; PMCID: PMC6958675.
Chakravorty S, Berger K, Arafat D, Nallamilli BRR, Subramanian HP, Joseph S, Anderson ME, Campbell KP, Glass J, Gibson G, Hegde M. Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. Muscle Nerve. 2019 Jul;60(1):98-103. doi: 10.1002/mus.26486. PMID:30990900 PMCID: PMC7688010
King, L. S., Pan, Y., Nallamilli, B. R. R., Hegde, M., Lakshmanan, J., Ramachander, V., … & Colzani, R. (2023). Pompe disease ascertained through The Lantern Project, 2018–2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis. Molecular Genetics and Metabolism, 107565.
Nallamilli, B. R. R., Pan, Y., Sniderman King, L., Jagannathan, L., Ramachander, V., Lucas, A., Markind, J., Colzani, R., & Hegde, M. (2023). Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies. Annals of clinical and translational neurology, 10.1002/acn3.51896. Advance online publication. PMID: 37688281
Balciuniene, J., Liu, R., Bean, L., Guo, F., Nallamilli, B. R. R., Guruju, N., Chen-Deutsch, X., Yousaf, R., Fura, K., Chin, E., Mathur, A., Ma, Z., Carmichael, J., da Silva, C., Collins, C., & Hegde, M. (2023). At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children. JAMA network open, 6(7), e2326445. PMID: 37523181 PMCID: PMC10391308
Sahajpal NS, Mondal AK, Njau A, Ananth S, Jones K, Ahluwalia PK, Ahluwalia M, Jilani Y, Chaubey A, Hegde M, Kota V, Rojiani A, Kolhe R. Effective optimization of SARS-CoV-2 laboratory testing variables in an era of supply chain constraints. Future Microbiol. 2020 Nov 12:1483-1487. doi: 10.2217/fmb-2020-0094. Epub ahead of print. PMID: 33179525.
Sahajpal NS, Mondal AK, Njau A, Ananth S, Jones K, Ahluwalia PK, Ahluwalia M, Jilani Y, Chaubey A, Hegde M, Kota V, Rojiani A, Kolhe R. Proposal of RT-PCR-Based Mass Population Screening for Severe Acute Respiratory Syndrome Coronavirus 2 (Coronavirus Disease 2019). J Mol Diagn. 2020 Oct;22(10):1294-1299. Epub 2020 Jul 30. PMID: 32738299