Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort
直接进行单倍型解析的5碱基HiFi测序，用于罕见病队列中高甲基化异常值的全基因组分析
期刊:Nature Communications
影响因子:14.7
doi:10.1038/s41467-023-38782-1
Warren A Cheung ,Adam F Johnson ,William J Rowell ,Emily Farrow ,Richard Hall ,Ana S A Cohen ,John C Means ,Tricia N Zion ,Daniel M Portik ,Christopher T Saunders ,Boryana Koseva ,Chengpeng Bi ,Tina K Truong ,Carl Schwendinger-Schreck ,Byunggil Yoo ,Jeffrey J Johnston ,Margaret Gibson ,Gilad Evrony ,William B Rizzo ,Isabelle Thiffault ,Scott T Younger ,Tom Curran ,Aaron M Wenger ,Elin Grundberg ,Tomi Pastinen
