NHGRI's Oral History Collection: Interview with Deanna Church

May 3, 2019 - Deanna Church, Ph.D., is the Senior Director for Mammalian Applications at Inscripta, Inc. She was previously the Senior Director of Applications at 10X Genomics, and the Senior Director of Genomics and Content at Personalis, Inc. In this oral history, Deanna recounts her time studying genomics in John Wasmuth’s lab at UC Irvine and her time as a staff scientist for the National Center for Biotechnology Information (NCBI) from 2009 to 2013. At NCBI she coordinated the mouse genome resources and headed NCBI’s team in the Genome Reference Consortium, an international group focusing on refining data on the human genome.

The National Human Genome Research Institute’s (NHGRI) Oral History Collection features discussions with influential figures in the field of genomics and the history of the institute. Intended for researchers and scholars, each oral history contains extensive conversation about science and medicine, biographical details and insights into the inner workings of institutions and initiatives. For more information, visit NHGRI’s History of Genomics Program at:

Credits:
Executive Producer: Christpher Donohue, NHGRI
Producer: Kris Wetterstrand, NHGRI
Assistant Producer: Jennifer Montooth, NHGRI
Videographer, Editor: Alvaro Encinas, NHGRI

[genometv]

00:19 - What got you first interested in science and genetics?
01:10 - How did you become involved in the Human Genome Project?
04:40 - Why has the mouse traditionally been a key model organism for biology, and later, genomics?
06:07 - What was it like working on the human side of the genome project starting in 1999?
06:30 - What were some specific challenges of the human assembly?
08:03 - What was distinctive about the Human Genome Project? How did this lead to some distinct challenges?
09:40 - How did the Human Genome Project integrate Genome Technology Development?
10:20 - Who were people brought in to make technological advances?
11:12 - When you got to NCBI, how was the effort distributed among the genome centers?
12:01 - What do you think were the key benefits of publishing a draft of the sequence?
13:36 - Did you see any drawbacks to publishing a working draft for people to use?
15:11 - Where does the phrase, 'Golden Path' come from?
15:51 - What is the 'Golden Path'?
17:35 - What were some of the most important assumptions about human variation during the last years of the Human Genome Project?
18:40 - Did it surprise you that structural variation was not mentioned in the 2003 strategic plan?
19:58 - Was this knowledge of structural variants coming from efforts like the HapMap?
21:03 - Where did the studies of structural variation come from?
22:19 - Why were SNPs rather than structural variants the focus of early human variation studies?
22:57 - How did short-read sequencing technologies influence our understanding of human variation?
24:12 - What will lead to more widespread study of structural variants?
24:55 - What are your views on missing heritability?
25:40 - What about penetrance in the context of missing heritability?
26:20 - Will our understanding of the missing heritability problem improve?
26:55 - Do we need to reexamine what we mean by heritable?
27:50 - What was the significance of the 2004, "Finishing the euchromatic sequence of the human genome" paper?
30:10 - What was the argument behind saying it was finished?
31:10 - Was the research community surprised when the Human Genome Project was declared "finished"?
32:10 - Why only the euchromatic sequence?
33:00 - What was challenging about this exactly?
34:17 - Could you talk about some of the gaps in the euchromatic sequence?
35:46 - How may of those types of problems have been solved?
38:30 - Do you think we will finally have a complete telomere to telomere assembly soon?
39:36 - Do you think it will be important to have multiple references from diverse populations?
40:45 - How did the Genome Reference Consortium begin?
45:41 - What sort of challenges remain with the reference sequence?