Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature

by Chang, G., Chen, Y., Ding, Y., Huang, X., Li, J., Li, N., Li, Q., Li, X., Shen, Y., Song, C., Wang, J., Wang, X., Wang, Y., Yao, R., Zhang, H.
Published 2022

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

by Balachandran, P., Beck, C.R, Danis, D., Haimel, M., Helbig, I., Jacobsen, J.O.B, Lee, C., Lyon, G.J, Mungall, C.J, Reese, J., Robinson, P.N, Smedley, D., Yilmaz, F., Zhu, Q.
Published 2022

A beginner's guide to assembling a draft genome and analyzing structural variants with long-read sequencing technologies

by Kim, C., Kim, J.
Published 2022

Root microbiome changes associated with cadmium exposure and/or overexpression of a transgene that reduces Cd content in rice

by Li, K., Ow, D.W, Wang, C.
Published 2022

LazyB: fast and cheap genome assembly

by Drozdova, P., Fallmann, J., Gatter, T., Hartmann, T., Stadler, P.F, von Löhneysen, S.
Published 2021

Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing

by Antiñolo, G., Antiñolo, J., Borrego, S., Bravo-Gil, N., Fernández, R.M, Gavilan, A., Muñoz-Redondo, C., Navarro-González, E., Tous, C.
Published 2023

Lung tissue shows divergent gene expression between chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis

by Barwick, L., Brown, K.K, Castaldi, P.J, Chase, R.P, Cho, M.H, Criner, G., DeMeo, D.L, Flaherty, K., Ghosh, A.J, Hersh, C.P, Hobbs, B.D, Limper, A.H, Martinez, F.J, McGoldrick, D., Moll, M., Morrow, J., NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Saferali, A., Sciurba, F., Silverman, E.K, Wise, R., Xu, Z., Yun, J.H, Ziniti, J.
Published 2022

The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)

by Bujakowska, K.M, Catomeris, A., Chao, K.R, CMG, B., Cole, B., DiTroia, S., England, E., Ferguson, C., Galdikaité-Braziené, E., Himes, S., Maher, M., Nassiri, S., Pagliarulo, J., Pierce, E.A, Place, E.M, Wagner, N.E, Zampaglione, E.
Published 2022

Paired-end small RNA sequencing reveals a possible overestimation in the isomiR sequence repertoire previously reported from conventional single read data analysis

by Luna de Haro, A., Pluvinet, R., Sanchez Herrero, J.F, Sumoy, L.
Published 2021

Effective design and inference for cell sorting and sequencing based massively parallel reporter assays

by Gilliot, P.-A, Gorochowski, T.E
Published 2023

Transcriptome diversity is a systematic source of variation in RNA-sequencing data

by Fraser, H.B, García-Nieto, P.E, Wang, B.
Published 2022

AbDiver: A tool to explore the natural antibody landscape to aid therapeutic design

by Deszyński, P., Galson, J.D, Ganesan, R., Jaszczyszyn, I., Kovaltsuk, A., Krawczyk, K., Leem, J., Młokosiewicz, J., Wilman, W.
Published 2022

A framework for high-throughput sequence alignment using real processing-in-memory systems

by Alser, M., Diab, S., El Hajj, I., Gómez Luna, J., Mutlu, O., Nassereldine, A.
Published 2023

FiNGS: high quality somatic mutations using filters for next generation sequencing

by Ashby, C., Bauer, M.A, Wardell, C.P
Published 2021

BoardION: real-time monitoring of Oxford Nanopore sequencing instruments

by Aury, J.-M, Bruno, A., Engelen, S.
Published 2021

Estimating sequencing error rates using families

by Chrisman, B., Jung, J.-Y, Paskov, K., Stockham, N.T, Sun, M.W, Varma, M., Wall, D.P, Washington, P.
Published 2021

DEGGs: an R package with shiny app for the identification of differentially expressed gene-gene interactions in high-throughput sequencing data

by Alaimo, S., Ferro, A., Latora, V., Lewis, M.J, Pitzalis, C., Pulvirenti, A., Sciacca, E., Silluzio, G.
Published 2023

Per-sample standardization and asymmetric winsorization lead to accurate clustering of RNA-seq expression profiles

by Pagnotta, S.M, Risso, D.
Published 2021

Chromatin Immunoprecipitation and Sequencing (ChIP-seq) Optimized for Application in Caenorhabditis elegans

by Kavšek, A., Riedel, C.G, Sen, I.
Published 2021

Long-read sequencing settings for efficient structural variation detection based on comprehensive evaluation

by Cao, S., Cui, Z., Guo, H., Jiang, T., Liu, S., Liu, Y., Wang, Y.
Published 2021