Learn more about what PerkinElmer Genomics is up to by reviewing our recent scientific abstracts and posters.

Poster Presentations

P425 Unparalleled power of whole genome sequencing (WGS) in screening ostensibly healthy newborns and children: findings from the first real-world dataset

P634 Development of a Hemolysis Index for Vanadis® cfDNA NIPT Sample Acceptance

P518 Limb-Girdle Muscular Dystrophy and other Myopathy Patients Diagnostic Yield in Large Cohort of more than 6000 patients

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.

P426 Recognizing the Promise and Potential Pitfalls of Genomic Medicine Through Routine Rapid Whole Genome Sequencing

P389 Real-World Evidence Demonstrating Why Genome Sequencing Should Be Recommended as the First-Tier Genetic Test

P012 Measuring Non-reducing Terminal Glycosaminoglycan Fragments increases specificity and differentiates Mucopolysaccharidosis Type I (MPS I) from Mucopolysaccharidosis Type II (MPS II)

P566 Importance Of Parental Segregation Studies and its Role in Variant Classification

P567 Comprehensive genetic testing gives a high diagnostic yield in the Indian sub-continent compared to the western population

P157 Efficiency of Genome Sequencing in Establishing Molecular Diagnosis in Undiagnosed Patients

P482 Application of CRISPR-Cas9 and next-generation sequencing to resolve highly homologous genes in the human genome

P656 Resolving clinically relevant short read deficient homologous sequences in the human genome using a novel CRISPR-CAS mediated targeted long read sequencing method

P441 Genomic and Biochemical Profile of Pseudodeficiency in Lysosomal Storage Disorders

P443 Genetic Screening of a Reportedly Healthy Population for Familial Hypercholesterolemia, Hereditary Breast and Ovarian cancer syndrome, and Lynch syndrome

P519 Evidence of Complex Inheritance Patterns in Limb-Girdle and other Muscular Dystrophies: Synergistic Heterozygosity and Multigenic Inheritance

A3108: High diagnostic yield from clinical genome sequencing supports genome sequencing as the first-tier genetic test: Evidence-based from 2100 index cases

Abstract 474: Whole genome sequencing is a powerful “one-stop shop” screening assay for uncovering undiagnosed conditions in apparently healthy pediatric cohort

Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using Optical Genome Mapping

 eP032 Measurement of nicotinamide adenine dinucleotide from dried blood spot cards

eP321 Extending and adapting the functions of genetic laboratories in the continuing COVID pandemic – challenges and successes

 eP331 Next-generation sequencing testing in identification and differential diagnosis of hereditary anemia due to erythrocyte membrane disorders, enzymopathies and related disorders 

eP335 Genetic testing for APOB, LDLR, PCSK9, and LDLRAP1 suggest that FH testing may be underutilized

 eP355 Repeat expansion disorders screening by WGS: strategy and stumbling blocks

 eP356 Whole exome sequencing expands the sensitivity and specificity of identification of sequence variants and CNVS in phenotypic females with DSD

eP357 Molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping

 eP371 A diverse set of case presentations highlighting the power of whole genome sequencing – what’s next?

eP372 Fast forward – is multiomics a resurgence of old?

eP380 Sequencing of entire 2.2 MB DMD gene facilitates diagnostic testing and aids selection of patients for therapeutic intervention

eP411 Tackling the COVID-19 pandemic by utilizing next generation sequencing technologies 

eP414 Diagnostic yield and clinical utility of nephrolithiasis and primary hyperoxaluaria sequencing panels

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

eP419: Newborn Screening Second Tier Molecular Testing is Critical for Identifying True Positives in Lysosomal Storage Diseases and X-linked Adrenoleukodystrophy

eP429: Genetic basis of Oculopharyngeal Muscular Dystrophy: Detection of Alanine repeats in PABPN1 gene by Next Generation Sequencing

eP433: Reducing the Time to Diagnosis for Spinal Muscular Atrophy

eP434: Extending and adapting the Functions of Genetic Laboratories in COVID-19 Pandemic – Challenges and Successes

eP491: Non-invasive prenatal screening by Vanadis LifeCycle® Platform

eP497: Global Approach to Prenatal Testing

Poster 545: Utilizing Advanced Genomic Technologies to Identify Dual Diagnoses

Poster 561: Insights Derived from The First 500+ Clinical Cases Run Utilizing Low Pass Genome Sequencing as an Alternative to Traditional Microarray

Poster 562: Newborn Screening Second Tier Molecular Testing for Lysosomal Storage Diseases and X-linked Adrenoleukodystrophy is Critical for Identifying True Positives

Poster 576: Direct Effects of Inbreeding: Increased Burden of Rare Genetic Disorders in Indian Sub-continent

Poster 596: Whole Genome Sequencing Improves Clinical Diagnosis in Patients with a Suspected Genetic Disorder(s): Diagnostic Yield from 386 Cases

Poster 633: High Resolution Analysis Of D4Z4 Repeat Regions For Studying Facioscapulohumeral Muscular Dystrophy (FSHD) Using Whole Genome Optical Mapping

Poster 673: Testing Reportedly Healthy Individuals for a Panel Of 59 Medically Actionably Genes: Are 59 Genes Enough?

Poster 766: Rolling Circle Replication Based, Non Invasive Prenatal (NIPT) Assay Offers A Globally Accessible, High Precision, And Low-cost Prenatal Aneuploidy Screen

Poster 820: Whole Genome Sequencing As A Screening Tool In Healthy Population: Lessons Learned From 110 Cases

Poster 247: Utilization of Whole Genome Sequencing to Improve Diagnostic Yield in Pediatric Patients with a Suspected Genetic Disorder

Poster 248: Experience from the First 150 Cases of Low Pass Genome Sequencing (5X) Demonstrates Clinical Utility and Provides Potential Alternative to Traditional Microarray in the Clinical Setting

Poster 339: An innovative non-invasive prenatal testing (NIPT) assay offers the potential for a low-cost highly-accurate aneuploidy screen in the global population

Poster 102: Donti et al. Utility of Metabolomics Screening in Familial Hypercholesterolemia in Combination with Genetic Diagnosis

Poster 103: Lui et al. Mosaicism, De Novo Occurrence and Subclinical Parents: Lessons Learned From Two-Year ABCD1 Second-Tier Confirmatory Testing

Poster 203: Collins et al. Genomic screening for hereditary cancer syndromes in more than 7,000 reportedly healthy individuals

Poster 671: Chaubey et al. 5X WGS assay as a more sensitive and cost-effective method to replace microarray in a diagnostic setting: Experience from the first 100 cases

Poster 673: Hegde et al. Comprehensive Clinical grade whole genome sequencing significantly improves diagnostic yield in in sick neonates and pediatric patients suspected of a genetic disorder

Poster 691: Kesari et al. Shining a Light on Diagnosis of Rare Genetic Disorders: The Lantern Project

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

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