Senior Professional Specialist - Biocuration - Human Gene Mutation Database (HGMD)

Cardiff University; Cardiff; Hybrid; GBP 41,000 - 46,000; Full time

Benefits offered by this job

45 days annual leave

Pension scheme

Cycle to work scheme

Living Wage supporter

Job summary

Cardiff University is seeking a Senior Professional Specialist in Biocuration for the Human Gene Mutation Database (HGMD®). The role focuses on screening literature, extracting novel inherited disease-causing mutations, and ensuring data accuracy before entry into HGMD.

The post is based at Heath Park campus and requires a degree in a relevant field with IT literacy and genetics experience. The successful candidate will work within the Division of Cancer and Genetics, School of Medicine, and

Qualifications

• Degree in a relevant discipline, IT literate, and some experience in human molecular genetics and inherited disease.

Responsibilities

• Screen the scientific literature on an ongoing basis to identify novel inherited disease-causing mutations and pertinent meta-data.
• Verify data for accuracy and novelty before entering it into HGMD.
• Contribute to data curation quality and integrity for the HGMD database.

Skills

IT literate

Experience in human molecular genetics

Education

Degree in a relevant discipline

Job description

Senior Professional Specialist - Biocuration - Human Gene Mutation Database (HGMD®)
Division of Cancer and Genetics
School of Medicine
College of Biomedical and Life Sciences

Working as a Biocurator for the Human Gene Mutation Database (HGMD®), your main role will be to screen the scientific literature on an ongoing basis, extract the novel inherited disease-causing mutations and any pertinent additional meta-data, and check those data for accuracy and novelty before entering them into HGMD. You should have a degree in a relevant discipline, be IT literate and have some experience in the sphere of human molecular genetics and inherited disease.

This post is based at the Heath Park campus.

Cardiff University offers many excellent benefits, including 45 days annual leave (incl bank holidays), pension scheme, a cycle to work scheme and other travel initiatives, annual increments within the pay scale, and more. It is an exciting and vibrant place to work, with many different challenges and is a proud Living Wage supporter.

The majority of roles at Cardiff University are currently operating under “blended working” arrangements, with staff having the flexibility to work partly from home and partly from the University campus depending on specific business requirements. Discussions around these arrangements can take place after the successful candidate has been appointed.

For informal enquiries, please contact Professor David Cooper (e-mail: [e-mail]) or Mr Peter Stenson (e-mail: [e-mail]).

This post is full-time (35 hours per week), open-ended and available immediately.

Salary: £41,064 - £46,049 per annum (Grade 6). Appointments are usually made at the bottom of the scale, except in exceptional circumstances.

Date advert posted: Friday, 25 September 2026

Closing date: Friday, 23 October 2026

Cardiff University is committed to supporting and promoting equality and diversity and to creating an inclusive working environment. We believe this can be achieved through attracting, developing, and retaining a diverse range of staff from many different backgrounds. We therefore welcome applicants from all sections of the community regardless of sex, ethnicity, disability, sexual orientation, trans identity, relationship status, religion or belief, caring responsibilities, or age. We especially welcome and encourage applications from those from under-represented groups within the University workforce, such as those who identify as LGBT +, BAME or those with disabilities. In supporting our employees to achieve a balance between their work and their personal lives, we will also consider proposals for flexible working or job share arrangements.

Applications may be submitted in Welsh, and an application submitted in Welsh will not be treated less favourably than an application submitted in English.

Uwch-arbenigwr Proffesiynol - Bioguradu - Cronfa Ddata Mwtaniadau Genyn Dynol (HGMD®)
Is-adran Canser a Geneteg
Yr Ysgol Meddygaeth
Coleg y Gwyddorau Biofeddygol a Bywyd

Gan weithio mewn rhinwedd y swydd, Bioguradur, ar y Gronfa Ddata Mwtaniad Genyn Dynol (HGMD®), eich prif rôl fydd ymchwilio’n gyson i lenyddiaeth wyddonol, echdynnu mwtaniadau genetig sy’n achosi clefydau a etifeddir ac unrhyw feta-data perthnasol ychwanegol, a gwirio'r data hynny am gywirdeb a newyddbethau cyn eu mewnbynnu i’r Gronfa ddata HGMD.

Dylech fod â gradd mewn disgyblaeth berthnasol, yn gallu defnyddio TG yn hyderus, ac â rhywfaint o brofiad ym maes geneteg foleciwlaidd ddynol a chlefydau etifeddol.

Lleolir y swydd hon ar gampws Parc y Mynydd Bychan.

Mae Prifysgol Caerdydd yn cynnig pecyn buddion gwych, sy’n cynnwys 45 diwrnod o wyliau blynyddol (gan gynnwys gwyliau banc), cynllun pensiwn lleol, cynllun beicio i'r gwaith a chynlluniau teithio eraill, cynyddrannau blynyddol ar hyd y raddfa gyflog, a mwy. Dyma le cyffrous a bywiog i weithio ynddo, gyda nifer o heriau gwahanol. Rydym hefyd yn falch o gefnogi’r Cyflog Byw.

Mae'r rhan fwyaf o swyddi ym Mhrifysgol Caerdydd yn gweithredu o dan drefniadau "gweithio cyfunol" ar hyn o bryd, gyda hyblygrwydd i staff weithio yn rhannol o’u cartref ac yn rhannol o gampws y Brifysgol yn dibynnu ar ofynion busnes penodol. Bydd modd trafod y trefniadau hyn ar ôl penodi'r ymgeisydd llwyddiannus.

Oes oes gennych unrhyw ymholiadau anffurfiol, cysylltwch â'r Athro David Cooper (e-bost: [e-mail]) neu Mr Peter Stenson (e-bost: [e-mail]).

Swydd amser llawn a phenagored (35 awr yr wythnos) yw hon ac mae modd dechrau ar unwaith.

Cyflog: £41,064 – £46,049 y flwyddyn (Gradd 6). Fel arfer, gwneir penodiadau ar waelod y raddfa, ac eithrio mewn amgylchiadau eithriadol.

Dyddiad hysbysebu: Dydd Gwener, 25 Medi 2026

Dyddiad cau: Dydd Gwener, 23 Hydref 2026

Mae Prifysgol Caerdydd wedi ymrwymo i gefnogi a hyrwyddo cydraddoldeb ac amrywiaeth a chreu gweithle cynhwysol. Rydym o’r farn bod modd gwneud hyn drwy ddenu, datblygu a chadw ystod amrywiol o bobl o lawer o gefndiroedd gwahanol. Felly, rym yn croesawu ceisiadau gan bobl o bob rhan o’r gymuned, beth bynnag fo’u rhyw, eu hethnigrwydd, eu hanabledd, eu cyfeiriadedd rhywiol, eu hunaniaeth draws, statws eu perthynas, eu crefydd neu eu cred, eu cyfrifoldebau gofalu neu eu hoedran. Rydym yn croesawu ac yn annog ceisiadau yn arbennig gan y rhai o grwpiau nad ydynt wedi’u cynrychioli’n ddigonol o fewn gweithlu'r Brifysgol, fel y rhai sy'n uniaethu fel LGBT+, o gefndiroedd du, Asiaidd ac ethnig leiafrifol neu'r rhai ag anableddau. Er mwyn helpu ein cyflogeion i sicrhau cydbwysedd rhwng eu gwaith a’u bywydau personol, byddwn hefyd yn ystyried cynigion i weithio’n hyblyg neu rannu swydd.

Caniateir i geisiadau gael eu cyflwyno yn Gymraeg, ac ni fydd cais a gyflwynir yn y Gymraeg yn cael ei drin yn llai ffafriol na chais a gyflwynir yn Saesneg.