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BGI has generated over 2097 publications in top-tier journals, such as Nature and Science. *All links lead to external websites.
2018
WES
DNBseq
Human
A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer
2018
WES
DNBseq
Human
A novel PTCH1 mutation underlies non‐syndromic cleft lip and/or palate in a Han Chinese family
2018
WES
DNBseq
Human
Identification of a mutL‑homolog 1 mutation via whole‑exome sequencing in a Chinese family with Gardner syndrome