Publications

BGI has generated over 2097 publications in top-tier journals, such as Nature and Science. The list below is a selection from the total publications. (All links lead to external websites.)

2018

Exome

Human

C/EBP β enhances platinum resistance of ovarian cancer cells by reprogramming H3K79 methylation link

2014

Exome

Human

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes
link

2014

Exome

Human

Human intracellular ISG15 prevents interferon-α/βover-amplification and auto-inflammation.
link

2015

Exome

Human

The UK10K project identifies rare variants in health and disease
link

2014

Exome

Human

Identification of genomic alterations in oesophageal squamous cell cancer
link

2014

Exome

Human

Activating Hotspot L205R Mutation in PRKACA and Adrenal Cushing's Syndrome
link

2013

Exome

Human

A large-scale screen for coding variants predisposing to psoriasis
link

2016

Exome

Human

Genomic heterogeneity of multiple synchronous lung cancer
link

2016

Exome

Human

Whole-exome sequencing implicates DGKH as a risk gene for panic disorder in the Faroese population
link

2018

Exome

BGISEQ-500

Human

A novel PTCH1 mutation underlies non‐syndromic cleft lip and/or palate in a Han Chinese family

2018

Exome

BGISEQ-500

Human

A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer

2018

Exome

BGISEQ-500

Human

Identification of a mutL‑homolog 1 mutation via whole‑exome sequencing in a Chinese family with Gardner syndrome

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