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PhD · Medical Genetics

Medical Genetics — PhD reading list.

The advanced references a doctoral scholar in Medical Genetics works from, and what each one is for.

All 22 subjects
8Titles listed
5Worked right through
3–6 yrsProgramme length
12Coursework credits
The subject

Medical Genetics as a research subject

ScopeCytogenetics and molecular cytogenetics, Mendelian and rare-disease gene discovery, prenatal and newborn genetic diagnosis, cancer genetics, pharmacogenomics and genetic counselling research.
Who can registerMD Medical Genetics or Paediatrics, MBBS, MSc Genetics, Biotechnology or Human Genetics, MSc Genetic Counselling.
How you get inEither the fellowship route — CSIR-UGC NET, ICMR, DBT-BET, DST-INSPIRE — straight to interview, or the institute entrance test, half research methodology and half medical genetics.
CourseworkOne semester, at least 12 credits: research methodology and biostatistics, plus Research and Publication Ethics, before the research phase proper begins.
How this list is used

Reading for Medical Genetics

Thompson & Thompson is the read-through that carries course work, and Jorde is the shorter companion most scholars revise the comprehensive from, but the PhD reading proper is Emery and Rimoin's, which is the multi-volume set the department keeps and the one a guide expects to see cited for any syndrome or mechanism claim. Strachan & Read is the molecular backbone of the introduction chapter for anything involving sequencing, variant interpretation or gene mapping, and Vogel & Motulsky's supplies the population and quantitative genetics that a family or cohort study needs. Cytogenetic thesis work runs entirely on two documents: the AGT manual for culture, harvest, banding and FISH protocols, and ISCN for karyotype notation, since every result line in the thesis must be written in it. Gardner and Sutherland's is the copy that comes out when a rearrangement has to be explained to a counselling family and then written up as a recurrence risk.

Titles are tagged core reading — the ones scholars work right through — or reference, the ones they look things up in. Editions are given where the current edition is what you want to buy.

  1. Thompson & Thompson Genetics and Genomics in Medicinecore readingRobert L. Nussbaum, Roderick R. McInnes and Huntington F. Willard; current edition ed. Cohn, Scherer and Hamosh · Elsevier · 9th edition (2023)The read-through for course work and the source of the framing most thesis introductions borrow.
  2. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomicscore readingReed E. Pyeritz, Bruce R. Korf and Wayne W. Grody (eds.) · Elsevier · 7th edition (2021)The department's multi-volume set, cited for syndrome detail and mechanism where a textbook is not enough.
  3. Human Molecular Geneticscore readingTom Strachan and Andrew Read · Garland Science (Taylor & Francis) · 5th edition (2019)The molecular backbone for sequencing, variant interpretation and gene-mapping chapters.
  4. Medical Geneticscore readingLynn B. Jorde, John C. Carey and Michael J. Bamshad · Elsevier · 6th edition (2019)The short companion most scholars actually revise the pre-PhD comprehensive from.
  5. Vogel and Motulsky's Human Genetics: Problems and Approachescore readingMichael R. Speicher, Stylianos E. Antonarakis and Arno G. Motulsky (eds.) · Springer · 4th edition (2009)Read for population, quantitative and epidemiological genetics behind a family or cohort study.
  6. The AGT Cytogenetics Laboratory ManualreferenceMarilyn S. Arsham, Margaret J. Barch and Helen J. Lawce (eds.) · WileyThe protocol manual for culture, harvest, banding and FISH that a cytogenetics methods chapter is written from.
  7. ISCN: An International System for Human Cytogenomic NomenclaturereferenceInternational Standing Committee on Human Cytogenomic Nomenclature · KargerThe notation standard every karyotype and array result line in the thesis has to be written in.
  8. Gardner and Sutherland's Chromosome Abnormalities and Genetic CounselingreferenceR. J. McKinlay Gardner and David J. Amor · Oxford University Press · 5th edition (2018)Used to work out and write up recurrence risks for rearrangements found in the study families.

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Alongside the subject list

The two lists every scholar also needs

Whatever the subject, the coursework semester is examined on research methodology, biostatistics and publication ethics, and the bench work runs on a handful of protocol volumes. Both lists are kept separately so you are not buying them twice.

Research methodology & biostatistics Laboratory methods & instrumentation Entrance routes Where it is offered
Other PhD subjects

Also on the site

All 22 subjectsAnatomyPhysiologyBiochemistryPharmacologyPathologyMicrobiologyCommunity Medicine and Public HealthBiotechnologyMolecular MedicineBiophysics
Related on the site

Medical Genetics at postgraduate level

DM Medical Genetics booksDrNB Medical Genetics books

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Frequently asked

PhD Medical Genetics — questions

Which books does a PhD scholar in Medical Genetics read?

The 8 titles on this page, of which 5 are worked right through and the rest are kept as references. Most scholars own two or three and use the department copy for the others.

Who can register for a PhD in Medical Genetics?

MD Medical Genetics or Paediatrics, MBBS, MSc Genetics, Biotechnology or Human Genetics, MSc Genetic Counselling.

What does a PhD in Medical Genetics cover?

Cytogenetics and molecular cytogenetics, Mendelian and rare-disease gene discovery, prenatal and newborn genetic diagnosis, cancer genetics, pharmacogenomics and genetic counselling research.

Is the coursework examined?

Yes. One semester of at least 12 credits, assessed before the research phase begins, covering research methodology, biostatistics and Research and Publication Ethics.

Can you print this reading for me?

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