The Repositive platform (https://repositive.io/?SEQanswers) is an online portal and community of users that facilitates finding, accessing, and sharing of published genomic data.
You can find all of my Corpasome family data, including 23andMe, exomes and VCF files using the Repositive platform.
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Information on exome data sharing
At his blog, Georgia Institute of Technology's Jung Choi is sharing his exome data from 23andMe. Choi spares no detail, discussing the specifics about how his data arrived, as well as what all that information looked like when he unpackaged the once-encrypted files. And there was plenty of information:
Given over 100,000 total variants, which should I look at first? Which of these are most likely to influence my health or appearance or behavior? Which of these have the most impact on me being me?
Choi says that his data indicate that about 15 percent of his predicted exome variants are rare or unique. "As more exomes and whole genomes are sequenced, the proportion of 'unique' variants will diminish, but the 15 percent proportion of rare variants is unlikely to shift significantly," he adds.
About jchoigt
I'm an Associate Professor in the School of Biology at Georgia Tech, and Faculty Coordinator of the Professional MS Bioinformatics degree program.
Link to site:
From: Wayne Kauffman at Rootsweb
Subject: [DNA] Exome mining source - y-SNPs
Date: Mon, 9 Jul 2012 16:13:46 -0700 (PDT)
For those interested in mining Exome results for new y-SNPs take a look at the data contained on
There should be about 88,710 y-bases covered in the results for the male samples. Even if they were sequenced as part of the 1000 genomes project the additional coverage may be useful for identifying SNPs.
We should see a couple of additional 23andMe y-chromosome BAM files go public this week. Will my 2+ novel y-SNPs remain unique as these other sources are mined?
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Developments in sequencing technologies and methodologies have transformed the field of epigenetics, giving researchers a better way to understand the complex world of gene regulation and heritable modifications. This article explores some of the diverse sequencing methods employed in the study of epigenetics, ranging from classic techniques to cutting-edge innovations while providing a brief overview of their processes, applications, and advances.
Methylation Detect...05-31-2023, 10:46 AM -
Differential Expression and Data Visualization: Recommended Tools for Next-Level Sequencing Analysis
After covering QC and alignment tools in the first segment and variant analysis and genome assembly in the second segment, we’re wrapping up with a discussion about tools for differential gene expression analysis and data visualization. In this article, we include recommendations from the following experts: Dr. Mark Ziemann, Senior Lecturer in Biotechnology and Bioinformatics, Deakin University; Dr. Medhat Mahmoud Postdoctoral Research Fellow at Baylor College of Medicine;...05-23-2023, 12:26 PM -
Continuing from our previous article, we share variant analysis and genome assembly tools recommended by our experts Dr. Medhat Mahmoud, Postdoctoral Research Fellow at Baylor College of Medicine, and Dr. Ming "Tommy" Tang, Director of Computational Biology at Immunitas and author of From Cell Line to Command Line.
Variant detection and analysis tools
Mahmoud classifies variant detection work into two main groups: short variants (<50...05-19-2023, 10:03 AM
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