Science & Technology PublicationEvidence · Explanation · Context
KHABRE.IN

Khabre desk

whole-genome-sequencing

Recent reporting, analysis and explainers from the whole-genome-sequencing desk.

Khabre branded placeholder image

science

Study finds accuracy losses in short-read structural-variant pipelines

A bioRxiv preprint benchmarked 16 tools using 30× Illumina whole-genome sequencing and found that only five reliably produced exact deletion, insertion and duplication calls against truth sets. It also reported accuracy losses in ensemble pipelines compared with their strongest component tools.

2026-10-15T00:56:45+05:30
Khabre branded placeholder image

health

Study Links Parental Age and ART to Offspring Mutations

Whole-genome sequencing of 7,851 parent–offspring families linked distinct assisted reproductive technology procedures and parental age with de novo mutations associated with gestational duration and other birth outcomes.

2026-09-15T08:07:04+05:30