Deborah Nickerson, a human genomics researcher who helped discover genes responsible for cardiovascular disease, autism and Miller syndrome, a rare condition that causes malformations of the face and limbs, died on Dec. 24 at her home in Seattle. She was 67.

Her brother, William Nickerson, who is her only immediate survivor, said the cause was abdominal cancer, which had been diagnosed less than a week earlier.

In her research, Dr. Nickerson employed the findings of the Human Genome Project, which completed its historic genetic sequencing of every human gene in 2003, and made them medically useful. By sequencing the genes of thousands of healthy people, she revealed how genetic variation could be used to target specific genes that cause inherited disorders.

“Her imprint on genomic medicine is profound,” said Dr. Gail Jarvik, a professor of medicine and genome science at the University of Washington School of Medicine. “Her role was in really helping us understand what changes in DNA among people meant, and in identifying what gene was changed in rare diseases.”

Dr. Nickerson was also a professor of genome sciences at the University of Washington and was a founder and director of one of the five clinical sites that comprise the Gregor Consortium, the successor to the Centers for Mendelian Genomics, named after Gregor Mendel, a 19th-century Austrian monk known as the father of genetics.

Funded by the National Institutes of Health, the consortium seeks to identify gene mutations responsible for what are known as Mendelian disorders, in which patients have a mutation in one gene, like that for cystic fibrosis or sickle cell anemia.

Working with Drs. Michael Bamshad and Jay Shendure, Dr. Nickerson found the gene for Miller syndrome, one of about 7,000 Mendelian disorders, in 2009.

Dr. Francis Collins, the former director of the N.I.H. who is now a senior investigator at the National Human Genome Research Institute, a part of the N.I.H., called the discovery of the Miller syndrome gene “an explosive moment” and a “jaw-dropping” example of genome sequencing, the technique used to read all or part of a person’s genome, an organism’s complete set of DNA.

“I never envisioned that we’d be able to do that in my career or lifetime,” he said in a phone interview, referring to the ability to determine a person’s illness by reading his genome.

Dr. Bamshad, also by phone, said: “Debbie was instrumental in developing the technology so that we could prove it could be done on other conditions. She was a great, hard-nosed scientist passionate about the role of trainees and women in science.”

The technology that Dr. Nickerson and her colleagues used led a year later to the discovery of genetic alterations that are responsible for Kabuki syndrome, a rare congenital disorder that causes children to be born with elongated eyes and arched eyebrows. (The term derives from the appearance of actors using exaggerated makeup in Kabuki theater.)

Deborah Ann Nickerson was born in Mineola, N.Y., on Long Island, and grew up in Jamaica, Queens, and West Islip, also on Long Island. Her parents, William and Josephine (Veccia) Nickerson, owned a garden center.

She graduated from Adelphi University in 1974 with a bachelor’s degree in biology and received her Ph.D in immunology from the University of Tennessee. She was a postdoctoral scholar in the division of infectious diseases from 1978-79 at the University of Kentucky’s college of medicine.

“I love science,” she said in a video on her university home page. “It was probably my hardest subject in school, and that’s why it drives me. You want to get better and understand more.”

Starting in 1979, Dr. Nickerson spent nearly a decade teaching biology at the University of South Florida before joining the biology department at the California Institute of Technology, first as a visiting associate and then as a senior research scientist. There she worked under Dr. Leroy Hood, who led the team that invented the DNA sequencer, which made the Human Genome Project possible.

She followed Dr. Hood to the University of Washington’s newly-created department of molecular biotechnology in 1992. After it merged with the university’s department of genetics in 2001, she stayed to form the department of genome sciences.

Dr. Nickerson was an early adapter of technologies that made DNA sequencing less expensive; using them, she created a catalog of human genetic variation from a diverse population by sequencing the genes of more than 6,500 volunteers. She then made it available online to other researchers, who have advanced it further.

She also led a group of researchers who in 2017 reported finding genetic variants among patients’ different responses to the blood thinner Warfarin, which had been a longstanding clinical problem.

Dr. Nickerson’s creative, unfiltered, tenacious style served her well in advising women and underserved minorities in her field, having risen in what had been a male-dominated world; in fighting for what she wanted when applying for grants; and in dealing with the leadership of the N.I.H. and its National Human Genome Research Institute.

“I was the N.H.G.R.I. director for less than an hour, and she was telling me how to do my job,” said Eric Green, who was appointed to that position in 2009. “The remarkable part is that she was almost always completely right.”

Dr. Jarvik recalled how Dr. Nickerson would counsel her on seeking grant money, encouraging her to ask for more and to aim higher. “She had entrepreneurial instincts,” she said, “and she understood big opportunities.”

She added, “I’m not a native risk-taker, and I’ve tried to ask myself, ‘What would Debbie do?’”