Identification of a large set of rare complete human knockouts

By P. Sulem, H. Helgason, A. Oddson, Hreinn Stefansson, S. A. Gudjonsson, Florian Zink, Eirikur Hjartarson, Gunnar Sigurdsson, Adalbjorg Jonasdottir, Á. Jónasdóttir and 9 more. 2015

219 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. Chengxiang Zhai
2. Michael C. Schatz
3. Gene E. Robinson

In Molecular Biology

1. Chengxiang Zhai
2. Michael C. Schatz
3. Steven L. Salzberg
4. Heng Li
5. Ronald C. Taylor

Citations in the corpus

• Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity (2017, unknown): “We compared our results to three recent reports in which homozygous pLoF genes have been catalogued: in Pakistanis living in Britain 6 , in Icelanders 7 , and in the Exome Aggregation Consortium (ExAC) 8 .”
• Evaluating drug targets through human loss-of-function genetic variation (2019, unknown): “%) without known human disease association have two-hit pLoF genotypes reported in gnomAD 7 , ELGH 26 , PROMIS 27 , DeCODE 28 , or UK BioBank 29 , suggesting this genotype may be tolerated.”
• Big Data: Astronomical or Genomical? (2015, background): “…both England [20] and Saudi Arabia [21] have announced plans to sequence 100,000 of their citizens, one-third of Iceland ’ s 320,000 citizens have donated blood for genetic testing [22], and researchers in both the US [23] and China [17] both aim to sequence 1 million genomes in the next few years.”