E-LIB Suche - Ergebnisse für: Bejerano, Gill

1

LUSTR: a new customizable tool for calling genome-wide germ..:

Lu, Jinfeng ; Toro, Camilo ; Adams, David R....
BMC Genomics. 25 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

2

Exome and genome sequencing in a heterogeneous population o..:

Pucel, Jenna ; Briere, Lauren C. ; Reuter, Chloe...
Genetics in Medicine. 26 (2024) 6 - p. 101115 , 2024

Link: https://doi.org/10.1016/..

3

Considerations for reporting variants in novel candidate ge..:

Chong, Jessica X. ; Berger, Seth I. ; Baxter, Samantha...
Genetics in Medicine. , 2024

Link: https://doi.org/10.1016/..

4

Participation in a national diagnostic research study: asse..:

Rosenfeld, Lindsay E. ; LeBlanc, Kimberly ; Nagy, Anna...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

5

Analysis of structural variation among inbred mouse strains:

Arslan, Ahmed ; Fang, Zhuoqing ; Wang, Meiyue...
BMC Genomics. 24 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

6

Whole-genome Comparisons Identify Repeated Regulatory Chang..:

Chen, Heidi I ; Turakhia, Yatish ; Bejerano, Gill..
Molecular Biology and Evolution. 40 (2023) 9 - p. , 2023

Link: https://doi.org/10.1093/..

7

Continuing a search for a diagnosis: the impact of adolesce..:

Miller, Ilana M. ; Yashar, Beverly M. ; Acosta, Maria T....
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

8

Genomics Research with Undiagnosed Children: Ethical Challe..:

Halley, Meghan C. ; Young, Jennifer L. ; Tang, Charis...
The Journal of Pediatrics. 261 (2023) - p. 113537 , 2023

Link: https://doi.org/10.1016/..

9

De novo variants in MRTFB have gain-of-function activity in..:

Andrews, Jonathan C. ; Mok, Jung-Wan ; Kanca, Oguz...
Genetics in Medicine. 25 (2023) 6 - p. 100833 , 2023

Link: https://doi.org/10.1016/..

10

Champagne: Automated Whole-Genome Phylogenomic Character Ma..:

Schull, James K ; Turakhia, Yatish ; Hemker, James A...
Genome Biology and Evolution. 14 (2022) 3 - p. , 2022

Link: https://doi.org/10.1093/..

11

WhichTF is functionally important in your open chromatin da..:

Tanigawa, Yosuke ; Dyer, Ethan S. ; Bejerano, Gill.
PLOS Computational Biology. 18 (2022) 8 - p. e1010378 , 2022

Link: https://doi.org/10.1371/..

12

X-CAP improves pathogenicity prediction of stopgain variant:

Rastogi, Ruchir ; Stenson, Peter D. ; Cooper, David N..
Genome Medicine. 14 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

13

Discovering monogenic patients with a confirmed molecular d..:

Wu, David Wei ; Bernstein, Jonathan A. ; Bejerano, Gill
Genetics in Medicine. 24 (2022) 10 - p. 2091-2102 , 2022

Link: https://doi.org/10.1016/..

14

InpherNet accelerates monogenic disease diagnosis using pat..:

Yoo, Boyoung ; Birgmeier, Johannes ; Bernstein, Jonathan A..
Genetics in Medicine. 23 (2021) 10 - p. 1984-1992 , 2021

Link: https://doi.org/10.1038/..

15

The Effect of Population Structure on Murine Genome-Wide As..:

Wang, Meiyue ; Fang, Zhuoqing ; Yoo, Boyoung..
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..