TrendBio

#18 · Genomics

Reference choice and tissue-aware models reshape somatic variant detection across human…

5 preprints · 1 published · ↑ 1.5× vs 4-wk avg
Items per day, last 8 weekstoday: 6

The dominant thread is that variant detection improves when the reference or statistical model is matched to the sample. An individual-specific pangenome is compared with hg38 for somatic calling in a pediatric AML case, with fewer false-positive indels reported. vafSOMA uses tissue composition to assign cell layers to somatic mutations in plant bulk sequencing, and a multi-platform framework benchmarks long-read and MEI-targeted sequencing for somatic mobile element insertions in human tissues. Related reference and reporting work includes composited genomes for barley MOA-seq and mito-overview, which integrates mtDNA coverage, allele fractions and long-read co-occurrence. UMR-seq pairs unmethylated-region capture with genetic variant sequencing. These last three are adjacent rather than strictly somatic-calling studies.

Published papers

Preprints

Topic history

DateRank
#18
#2
#17
#40
#11
#7
#6
#1
#5
#17
#6
#34
#3
#2
#17
#28
#33
#11
#7
#26
#26
#27
#32
#33
#28
#29
#12
#12
#25
#19
#18
#7
#16
#10
#19
#15
#6
#10
#11
#19
#26
#22
#35

Sponsors