Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Alex V. Kotlar"'
Publikováno v:
Genome Biology, Vol 19, Iss 1, Pp 1-11 (2018)
Abstract Accurately selecting relevant alleles in large sequencing experiments remains technically challenging. Bystro (https://bystro.io/) is the first online, cloud-based application that makes variant annotation and filtering accessible to all res
Externí odkaz:
https://doaj.org/article/d1aeaf722c9144b8820160089405e8a0
Autor:
Alena Kozlova, Siwei Zhang, Alex V. Kotlar, Brendan Jamison, Hanwen Zhang, Serena Shi, Marc P. Forrest, John McDaid, David J. Cutler, Michael P. Epstein, Michael E. Zwick, Zhiping P. Pang, Alan R. Sanders, Stephen T. Warren, Pablo V. Gejman, Jennifer G. Mulle, Jubao Duan
Publikováno v:
Am J Hum Genet
Identifying causative gene(s) within disease-associated large genomic regions of copy-number variants (CNVs) is challenging. Here, by targeted sequencing of genes within schizophrenia (SZ)-associated CNVs in 1,779 SZ cases and 1,418 controls, we iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53797a3fcb8041accdd6f2b9b098636c
https://doi.org/10.1016/j.ajhg.2022.07.001
https://doi.org/10.1016/j.ajhg.2022.07.001
Publikováno v:
Cancer Research. 82:5066-5066
Background Accurate detection of tumor sequence when the overall tumor content (TC) of the sample is low ( Methods We developed a maximum likelihood (ML) method for inferring the TC of MRD samples, rather than VAF at individual sites. This method con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::35685b3697e06737fb37f35006eb08d4
https://doi.org/10.1158/1538-7445.am2022-5066
https://doi.org/10.1158/1538-7445.am2022-5066
Publikováno v:
Cancer Research. 82:5996-5996
Introduction: Recently, liquid biopsy has begun to be adopted for treatment selection and drug-resistance assessment for cancers. However, currently liquid biopsy is mostly focused on analyzing cell-free DNA (cfDNA). Though analyzing RNA provides mor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb861b1faf34669c934d9c1bd0b36861
https://doi.org/10.1158/1538-7445.am2022-5996
https://doi.org/10.1158/1538-7445.am2022-5996
Autor:
Marc P. Forrest, Michael E. Zwick, Alena Kozlova, Stephen T. Warren, Alan R. Sanders, Siwei Zhang, Alex V. Kotlar, Hanwen Zhang, Pablo V. Gejman, Jennifer G. Mulle, Zhiping P. Pang, David J. Cutler, Jubao Duan, Brendan Jamison, John McDaid
Publikováno v:
European Neuropsychopharmacology. 51:e71
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::982a90e8b0a99ab7271c90a8f5f416b7
https://doi.org/10.1016/j.euroneuro.2021.07.146
https://doi.org/10.1016/j.euroneuro.2021.07.146
Publikováno v:
European Journal of Medical Genetics. 58:704-714
Schizophrenia research has undergone a recent transformation. By leveraging large sample sizes, genome-wide association studies of common genetic variants have approximately tripled the number of candidate genetic loci. Rare variant studies have iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b70f65ac085187ec9d44d096d62826c
https://doi.org/10.1016/j.ejmg.2015.10.008
https://doi.org/10.1016/j.ejmg.2015.10.008
Autor:
Thomas S. Wingo, Alex V. Kotlar
Publikováno v:
BCB
Accurately identifying disease-associated alleles from large sequencing experiments remains challenging. During this tutorial, participants will learn how to use a new variant annotation and filtering web app called Bystro (https://bystro.io/) to ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe5ba9dff6992e0b3cad56c317dc4c8d
https://doi.org/10.1145/3233547.3233666
https://doi.org/10.1145/3233547.3233666
Publikováno v:
BCB
Describing, prioritizing, and selecting alleles from large sequencing experiments remains technically challenging. SeqAnt (https://seqant.emory.edu) is the first online, cloud-based application that makes these tasks accessible for non-programmers, e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b080e9d17cb809ff0af9cbba152e756
https://doi.org/10.1145/3107411.3108231
https://doi.org/10.1145/3107411.3108231
Publikováno v:
BMC Bioinformatics
Targeted resequencing offers a cost-effective alternative to whole-genome and whole-exome sequencing when investigating regions known to be associated with a trait or disease. There are a number of approaches to targeted resequencing, including micro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c0a965c60694634ee62a9ee6c9f2b44
http://europepmc.org/articles/PMC5217220
http://europepmc.org/articles/PMC5217220