WES Single Sample Demo Data

Additional Analysis Figures

Publications

Bradley CP, Chen C, Oetjen KA, Yan C, Panjwani R, Hauffe S, Calvo KR, Yuan C, Patel PA, Montgomery ND, Foster MC, Battiwalla M, Barrett AJ, Gibbons RJ, Ito S. Persistence of skewed X-chromosome inactivation in pre-B acute lymphoblastic leukemia of a female ATRX mutation carrier. Blood Adv. 2019 Sep 10;3(17):2627-2631. doi: 10.1182/bloodadvances.2019000013. PMID: 31501157; PMCID: PMC6737413.

Meir Z, Mukamel Z, Chomsky E, Lifshitz A, Tanay A. Single-cell analysis of clonal maintenance of transcriptional and epigenetic states in cancer cells. Nat Genet. 2020 Jul;52(7):709-718. doi: 10.1038/s41588-020-0645-y. Epub 2020 Jun 29. PMID: 32601473; PMCID: PMC7610382.

Exome capture sequencing of extracted DNA was done by IDTxGen lockdown human panel (Admera Health, LLC South Plainfield, NJ).

Lin YH, Zhang S, Zhu M, Lu T, Chen K, Wen Z, Wang S, Xiao G, Luo D, Jia Y, Li L, MacConmara M, Hoshida Y, Singal AG, Yopp A, Wang T, Zhu H. Mice With Increased Numbers of Polyploid Hepatocytes Maintain Regenerative Capacity But Develop Fewer Hepatocellular Carcinomas Following Chronic Liver Injury. Gastroenterology. 2020 May;158(6):1698-1712.e14. doi: 10.1053/j.gastro.2020.01.026. Epub 2020 Jan 20. PMID: 31972235; PMCID: PMC8902703.

Captured nucleotides were subjected to 150–base pair paired-end sequencing on an Illumina HiSeq platform (Admera Health, South Plainfield, NJ).

Zhu M, Lu T, Jia Y, Luo X, Gopal P, Li L, Odewole M, Renteria V, Singal AG, Jang Y, Ge K, Wang SC, Sorouri M, Parekh JR, MacConmara MP, Yopp AC, Wang T, Zhu H. Somatic Mutations Increase Hepatic Clonal Fitness and Regeneration in Chronic Liver Disease. Cell. 2019 Apr 18;177(3):608-621.e12. doi: 10.1016/j.cell.2019.03.026. Epub 2019 Apr 4. PMID: 30955891; PMCID: PMC6519461.

Exome sequencing was performed by Admera Health.

HIF-2 Complex Dissociation, Target Inhibition, and Acquired Resistance with PT2385, a First-in-Class HIF-2 Inhibitor, in Patients with Clear Cell Renal Cell Carcinoma

Whole-exome sequencing (WES) was performed by Admera Health.

Saba NF, Steuer CE, Ekpenyong A, McCook-Veal A, Magliocca K, Patel M, Schmitt NC, Stokes W, Bates JE, Rudra S, Remick J, McDonald M, Abousaud M, Tan AC, Fadlullah MZH, Chaudhary R, Muzaffar J, Kirtane K, Liu Y, Chen GZ, Shin DM, Teng Y, Chung CH. Pembrolizumab and cabozantinib in recurrent metastatic head and neck squamous cell carcinoma: a phase 2 trial. Nat Med. 2023 Apr;29(4):880-887. doi: 10.1038/s41591-023-02275-x. Epub 2023 Apr 3. PMID: 37012550; PMCID: PMC10205145.

For WES, tumor DNA samples from 16 formalin-fixed, paraffin-embedded (FFPE) tumors and germline DNA samples from four buffy coats were extracted and sequenced at Admera Health.

Lopez-Rivera DO, Castano-Jaramillo LM, Yamazaki-Nakashimada MA, Ramirez Uribe RMN, Corcuera Delgado CT, Ignorosa-Arellano KR, Medina-Torres EA, Berrón Ruiz L, Espinosa-Padilla SE, Scheffler-Mendoza SC, López-Velázquez G, Cruz-Munoz ME, Lugo Reyes SO. Not enough by half: NFAT5 haploinsufficiency in two patients with Epstein-Barr virus susceptibility. Front Immunol. 2022 Sep 27;13:959733. doi: 10.3389/fimmu.2022.959733. PMID: 36238298; PMCID: PMC9552184.

Whole-exome sequencing (WES) was performed with an Illumina HiSeq platform (Admera Health, New Jersey), aiming for a 90% coverage of the IDT Xgen library, human genome version 38 (hg38, December 2013)

Meir Z, Mukamel Z, Chomsky E, Lifshitz A, Tanay A. Single-cell analysis of clonal maintenance of transcriptional and epigenetic states in cancer cells. Nat Genet. 2020 Jul;52(7):709-718. doi: 10.1038/s41588-020-0645-y. Epub 2020 Jun 29. PMID: 32601473; PMCID: PMC7610382.

Exome capture sequencing of extracted DNA was done by IDTxGen lockdown human panel (Admera Health, LLC South Plainfield, NJ).

Alexa M Barber and others, Whole-genome sequencing to investigate a possible genetic basis of perosomus elumbis in a calf resulting from a consanguineous mating, Translational Animal Science, Volume 5, Issue Supplement_S1, December 2021, Pages S1–S5, https://doi.org/10.1093/tas/txab171

Whole Genome Sequencing and Variant Filtering DNA collected from the affected calf, the dam, the sire, and three paternal half-siblings was sent to Admera Health (South Plainfield, NJ) for KAPA library prep and 150 bp paired-end sequencing on an Illumina NovaSeq to a targeted sequencing depth of 12X

Estandia-Ortega, B.; Reyna-Fabián, M.E.; Velázquez-Aragón, J.A.; González-del Angel, A.; Fernández-Hernández, L.; Alcántara-Ortigoza, M.A. The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes. Life 2022, 12, 1723. https://doi.org/10.3390/life12111723

Libraries were sequenced on an Illumina MiSeq 2 × 150 platform (San Diego, CA, USA) through the Admera Health Company (South Plainfield, NJ, USA).

 

Lee MC, Cai H, Murray CW, Li C, Shue YT, Andrejka L, He AL, Holzem AME, Drainas AP, Ko JH, Coles GL, Kong C, Zhu S, Zhu C, Wang J, van de Rijn M, Petrov DA, Winslow MM, Sage J. A multiplexed in vivo approach to identify driver genes in small cell lung cancer. Cell Rep. 2023 Jan 31;42(1):111990. doi: 10.1016/j.celrep.2023.111990. Epub 2023 Jan 13. PMID: 36640300; PMCID: PMC9972901.

Purified libraries from each mouse were pooled at equal ratios based on lung weight to ensure even sequencing depth per cell, purified once more with Sera-Mag Select beads to remove excess free primers, and sequenced on the Illumina HiSeq 2500 or NextSeq 550 platform (Admera Health Biopharma Services).

Zhou XA, Yang J, Ringbloom KG, Martinez-Escala ME, Stevenson KE, Wenzel AT, Fantini D, Martin HK, Moy AP, Morgan EA, Harkins S, Paxton CN, Hong B, Andersen EF, Guitart J, Weinstock DM, Cerroni L, Choi J, Louissaint A. Genomic landscape of cutaneous follicular lymphomas reveals 2 subgroups with clinically predictive molecular features. Blood Adv. 2021 Feb 9;5(3):649-661. doi: 10.1182/bloodadvances.2020002469. PMID: 33560380; PMCID: PMC7876877.

The authors thank the patients who contributed specimens to this study; the Northwestern Skin Disease Research Center (DNA/RNA Delivery Core), the Robert H. Lurie Comprehensive Cancer Center (Pathology Core), the Center for Cancer Genome Discovery, the Yale Center for Genome Analysis, and Admera Health for their sequencing support;

Daniels J, Doukas PG, Escala MEM, Ringbloom KG, Shih DJH, Yang J, Tegtmeyer K, Park J, Thomas JJ, Selli ME, Altunbulakli C, Gowthaman R, Mo SH, Jothishankar B, Pease DR, Pro B, Abdulla FR, Shea C, Sahni N, Gru AA, Pierce BG, Louissaint A Jr, Guitart J, Choi J. Cellular origins and genetic landscape of cutaneous gamma delta T cell lymphomas. Nat Commun. 2020 Apr 14;11(1):1806. doi: 10.1038/s41467-020-15572-7. PMID: 32286303; PMCID: PMC7156460.

We thank Admera Health for performing next generation sequencing

Chung AS, Mettlen M, Ganguly D, Lu T, Wang T, Brekken RA, Hsiehchen D, Zhu H. Immune Checkpoint Inhibition is Safe and Effective for Liver Cancer Prevention in a Mouse Model of Hepatocellular Carcinoma. Cancer Prev Res (Phila). 2020 Nov;13(11):911-922. doi: 10.1158/1940-6207.CAPR-20-0200. Epub 2020 Aug 24. PMID: 32839204; PMCID: PMC8284815.

We would like to thank... and Admera Health (Yun Zhao) for genomics

Maggio AG, Shu HT, Laufer BI, Bi C, Lai Y, LaSalle JM, Hu VW. Elevated exposures to persistent endocrine disrupting compounds impact the sperm methylome in regions associated with autism spectrum disorder. Front Genet. 2022 Aug 11;13:929471. doi: 10.3389/fgene.2022.929471. PMID: 36035158; PMCID: PMC9403863.

The sperm DNA samples were sent to Admera Health (South Plainfield, NJ, United States), a CLIA-certified laboratory, for WGBS analyses.