日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Constellation illuminates rare disease genetics

星座揭示罕见病遗传学

Cheng, Siyuan; Zhang, Qing; Zheng, Xinchang; Jhangiani, Shalini; Weir, Jacqueline C; Farek, Jesse R; Mehta, Heer H; Khan, Ziad M; Han, Yi; Dinh, Huyen H; Blankenburg, Kerstin P; Posey, Jennifer E; Gibbs, Richard A; Muzny, Donna M; Carvalho, Claudia M B; Bekritsky, Mitchell A; Crawford, Ali; Calame, Daniel; Han, James; Sedlazeck, Fritz J

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

一个包含540万个已定相人类变异的参考数据集,这些变异通过对一个三代17人家系进行测序,并经遗传遗传学验证。

Eberle, Michael A; Fritzilas, Epameinondas; Krusche, Peter; Källberg, Morten; Moore, Benjamin L; Bekritsky, Mitchell A; Iqbal, Zamin; Chuang, Han-Yu; Humphray, Sean J; Halpern, Aaron L; Kruglyak, Semyon; Margulies, Elliott H; McVean, Gil; Bentley, David R

Detection of long repeat expansions from PCR-free whole-genome sequence data

利用无PCR全基因组测序数据检测长重复序列扩增

Dolzhenko, Egor; van Vugt, Joke J F A; Shaw, Richard J; Bekritsky, Mitchell A; van Blitterswijk, Marka; Narzisi, Giuseppe; Ajay, Subramanian S; Rajan, Vani; Lajoie, Bryan R; Johnson, Nathan H; Kingsbury, Zoya; Humphray, Sean J; Schellevis, Raymond D; Brands, William J; Baker, Matt; Rademakers, Rosa; Kooyman, Maarten; Tazelaar, Gijs H P; van Es, Michael A; McLaughlin, Russell; Sproviero, William; Shatunov, Aleksey; Jones, Ashley; Al Khleifat, Ahmad; Pittman, Alan; Morgan, Sarah; Hardiman, Orla; Al-Chalabi, Ammar; Shaw, Chris; Smith, Bradley; Neo, Edmund J; Morrison, Karen; Shaw, Pamela J; Reeves, Catherine; Winterkorn, Lara; Wexler, Nancy S; Housman, David E; Ng, Christopher W; Li, Alina L; Taft, Ryan J; van den Berg, Leonard H; Bentley, David R; Veldink, Jan H; Eberle, Michael A

De novo gene disruptions in children on the autistic spectrum

自闭症谱系儿童的新生基因突变

Iossifov, Ivan; Ronemus, Michael; Levy, Dan; Wang, Zihua; Hakker, Inessa; Rosenbaum, Julie; Yamrom, Boris; Lee, Yoon-Ha; Narzisi, Giuseppe; Leotta, Anthony; Kendall, Jude; Grabowska, Ewa; Ma, Beicong; Marks, Steven; Rodgers, Linda; Stepansky, Asya; Troge, Jennifer; Andrews, Peter; Bekritsky, Mitchell; Pradhan, Kith; Ghiban, Elena; Kramer, Melissa; Parla, Jennifer; Demeter, Ryan; Fulton, Lucinda L; Fulton, Robert S; Magrini, Vincent J; Ye, Kenny; Darnell, Jennifer C; Darnell, Robert B; Mardis, Elaine R; Wilson, Richard K; Schatz, Michael C; McCombie, W Richard; Wigler, Michael