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but is it conceptually correct to filter those variants out anyway?Leave a comment:
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Just for the first part of your question. One possibility is to use a BED file(s) for the "repeat" group (repeatmasker etc) from UCSC table browser to identify/filter out variants that lie in those regions.Leave a comment:
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Low complexity regions
I would like to ask the community is it a correct procedure to filter out variants that are called within low complexity regions(I used GATK standard procedures to call variants) ? I am now filtering this exome seq data of multiple affected individuals within families. I noticed that these variants within low complexity regions sometimes co-segregate with the affection status.....are these variants artefacts or are they real ????
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Many organizations study rare diseases, but few have a mission as impactful as Rady Children’s Institute for Genomic Medicine (RCIGM). “We are all about changing outcomes for children,” explained Dr. Stephen Kingsmore, President and CEO of the group. The institute’s initial goal was to provide rapid diagnoses for critically ill children and shorten their diagnostic odyssey, a term used to describe the long and arduous process it takes patients to obtain an accurate...12-16-2024, 07:57 AM -
Innovations in next-generation sequencing technologies and techniques are driving more precise and comprehensive exploration of complex biological systems. Current advancements include improved accessibility for long-read sequencing and significant progress in single-cell and 3D genomics. This article explores some of the most impactful developments in the field over the past year.
Long-Read Sequencing
Long-read sequencing has seen remarkable advancements,...12-02-2024, 01:49 PM
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