Amirali Kia

TL;DR: A deep neural network is described that accurately predicts splice junctions from an arbitrary pre-mRNA transcript sequence, enabling precise prediction of noncoding genetic variants that cause cryptic splicing.

TL;DR: In this article, a transposome hypersensitive sites sequencing assay for highly sensitive characterization of chromatin accessibility is presented, where linear amplification of accessible DNA ends with in vitro transcription, coupled with an engineered Tn5 super-mutant, demonstrates improved sensitivity on limited input materials, and accessibility of small regions near distal enhancers, compared with ATAC-seq.

TL;DR: In this article, the authors describe methods and compositions for preparing an immobilized library of barcoded DNA fragments of a target nucleic acid, identifying genomic variants, determining the contiguity information, phasing information, and methylation status.

TL;DR: Examination of circulating RNA in pregnant women who developed early-onset preeclampsia found 49 transcripts of maternal, placental, and fetal origin that classified a small but independent cohort of pregnant women with early-ONSet preeClampsia, suggesting C-RNA may hold promise for improving the diagnosis and identification of at-risk pregnancies.

TL;DR: In this article, transposase enzymes and reaction conditions for improved fragmentation and tagging of nucleic acid samples, in particular altered transposases and reaction condition which exhibit improved insertion sequence bias, are presented.